Petter Strømme

• Awamleh, Zain; Chen, Anthony; Choufani, Sanaa; Rots, Dmitrijs; Ko, Jung Min & Armour, Christine M. [Vis alle 25 forfattere av denne artikkelen] (2026). KMT2A and KMT2B episignatures address diagnostic challenges associated with rare neurodevelopmental disorders. Genetics in Medicine. ISSN 1098-3600. 28(10). doi: 10.1016/j.gim.2026.102636. Fulltekst i vitenarkiv
• Misceo, Doriana; Strømme, Petter; Sundaram, Arvind; Bjørnstad, Pål Marius; Strand, Mari Elen & Chawla, Maninder Singh [Vis alle 7 forfattere av denne artikkelen] (2026). A Homozygous Deep Intronic SNX14 Variant Activates Pseudo-Exon Inclusion in a Patient with SCAR20. Genes. 17(4). doi: 10.3390/genes17040378. Fulltekst i vitenarkiv Vis sammendrag

  Background: The contribution of intronic variants to the etiology of Mendelian diseases is still underrecognized, impacting the diagnostic yield. Whole genome sequencing (WGS) detects intronic variants, but besides canonical splice-sites, intronic variants are frequently excluded from the interpretation step or are classified as variants of uncertain significance (VUS). In fact, assessing their clinical significance often requires validation via RNA-sequencing (RNA-seq) or in vitro studies. Methods: We studied a 31-year-old patient with spinocerebellar ataxia who lacked a molecular diagnosis after WGS analysis. We applied the Detection of RNA Outliers Pipeline (DROP) to analyze RNA-seq data from patient fibroblasts. DROP integrates OUTRIDER and FRASER 2.0 algorithms designed to identify aberrant gene expression and splicing, respectively. Results: DROP identified differential expression and aberrant splicing of SNX14. Retrospective WGS data analysis revealed a homozygous NM_153816.6(SNX14): c.867+288A>G deep intronic variant, which caused pseudo-exon activation and reduced transcript levels. Biallelic loss-of-function variants in SNX14 cause autosomal recessive spinocerebellar ataxia type 20 (SCAR20; OMIM 616354), consistent with the clinical presentation of this case. Conclusions: We identify a deep intronic SNX14 variant as the genetic basis of SCAR20. We demonstrate the utility of RNA-seq to increase the diagnostic yield by identifying and resolving the pathogenicity of deep intronic variants. Defining aberrant splicing events is therapeutically relevant, as these mechanisms are targets for antisense oligonucleotide (ASO) based interventions.

• Canavati, Christina; Oppebøen, Mari; Verma, Radha; Misceo, Doriana; Frengen, Eirik & Salvador, Cathrin Lytomt [Vis alle 29 forfattere av denne artikkelen] (2026). Biallelic SUPT4H1 variants cause a multisystem neurodevelopmental disorder associated with disrupted transcription. Genetics in Medicine. ISSN 1098-3600. 28(5). doi: 10.1016/j.gim.2026.102553. Fulltekst i vitenarkiv Vis sammendrag

  Purpose We aimed to define the clinical and genetic basis of an autosomal recessive neurodevelopmental disorder identified in 3 unrelated families with an overlapping multisystem phenotype. Methods Exome or genome sequencing was performed in 6 affected individuals from 3 families, revealing biallelic variants in SUPT4H1. Functional effects were evaluated using CRISPR and RNAi knockdown in C. elegans. Transcriptomic and proteomic profiling were conducted on patient-derived fibroblasts. Phylogenetic profiling assessed evolutionary conservation and coevolution. Dopamine response was evaluated in 2 affected siblings. Results All individuals carried biallelic SUPT4H1 variants—1 frameshift and 2 missense variants. Shared features included intellectual disability, dystonia, speech impairment, craniofacial dysmorphism, skeletal anomalies, and enamel hypoplasia. Functional modeling in C. elegans confirmed pathogenicity through neuromotor deficits. Multiomics analyses revealed dysregulation of developmental gene networks and the transcriptional machinery with disrupted RNA polymerase complexes and cell-cycle regulators. Dopamine treatment improved motor symptoms and normalized cerebrospinal neurotransmitter levels in 2 siblings. Conclusion Biallelic variants in SUPT4H1 cause a previously unrecognized multisystem neurodevelopmental disorder. These findings underscore the importance of disrupted transcription in human disease and demonstrate how integrated multiomics and cross-species modeling can reveal underlying mechanisms and provide a foundation for future studies of transcriptional regulation.

• Hynes, Claire; Williams, Evan; Misceo, Doriana; Strømme, Petter; Frengen, Eirik & Kakumani, Pavan Kumar (2025). De novo CSDE1 missense variant T595N regulates miRNA expression in a patient with a complex neurodevelopmental condition. Biochimica et Biophysica Acta - Molecular Basis of Disease. ISSN 0925-4439. 1872(3). doi: 10.1016/j.bbadis.2025.168104. Fulltekst i vitenarkiv Vis sammendrag

  • Loss of function variants in CSDE1 have been identified in patients with neurodevelopmental disorders. • De novo CSDE1 missense variant T595N was identified in an individual manifesting autistic behavior in addition to features typical of Cohen syndrome. • Patient derived skin fibroblasts expressing T595N showed increased expression of HECW2. • HECW2 is a ubiquitin ligase associated with neurodevelopment, and a synapse-related target of CSDE1. • The E3 ligase activity of HECW2 is necessary for the downregulation of Dicer protein, a core component in the miRNA pathway that dictates miRNA expression.

• Misceo, Doriana; Strømme, Petter; Bitarafan, Fatemeh; Chawla, Maninder Singh; Sheng, Ying & Courtade, Sandra Monica Bach de [Vis alle 8 forfattere av denne artikkelen] (2024). Biallelic NDUFA4 Deletion Causes Mitochondrial Complex IV Deficiency in a Patient with Leigh Syndrome. Genes. 15:500(4), s. 1–10. doi: 10.3390/genes15040500. Fulltekst i vitenarkiv Vis sammendrag

  Oxidative phosphorylation involves a complex multi-enzymatic mitochondrial machinery critical for proper functioning of the cell, and defects herein cause a wide range of diseases called “primary mitochondrial disorders” (PMDs). Mutations in about 400 nuclear and 37 mitochondrial genes have been documented to cause PMDs, which have an estimated birth prevalence of 1:5000. Here, we describe a 4-year-old female presenting from early childhood with psychomotor delay and white matter signal changes affecting several brain regions, including the brainstem, in addition to lactic and phytanic acidosis, compatible with Leigh syndrome, a genetically heterogeneous subgroup of PMDs. Whole genome sequencing of the family trio identified a homozygous 12.9 Kb deletion, entirely overlapping the NDUFA4 gene. Sanger sequencing of the breakpoints revealed that the genomic rearrangement was likely triggered by Alu elements flanking the gene. NDUFA4 encodes for a subunit of the respiratory chain Complex IV, whose activity was significantly reduced in the patient’s fibroblasts. In one family, dysfunction of NDUFA4 was previously documented as causing mitochondrial Complex IV deficiency nuclear type 21 (MC4DN21, OMIM 619065), a relatively mild form of Leigh syndrome. Our finding confirms the loss of NDUFA4 function as an ultra-rare cause of Complex IV defect, clinically presenting as Leigh syndrome.

• Ortigoza-Escobar, Juan Darío; Zamani, Mina; Dorison, Nathalie; Sadeghian, Saeid; Azizimalamiri, Reza & Alvi, Javeria Raza [Vis alle 37 forfattere av denne artikkelen] (2024). Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders. Movement Disorders. ISSN 0885-3185. 39(9), s. 1624–1630. doi: 10.1002/mds.29883. Fulltekst i vitenarkiv Vis sammendrag

  Background Biallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69). Objective The aim was to provide insights into the clinical and genetic characteristics of ZBTB11-related disorders (ZBTB11-RD), with a particular emphasis on progressive complex movement abnormalities. Methods Thirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization. Results All patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants. Conclusions This study provides additional insights into the clinical features and spectrum of ZBTB11-RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype.

• Ghaffar, Amama; Akhter, Tehmeena; Strømme, Petter; Misceo, Doriana; Khan, Amjad & Frengen, Eirik [Vis alle 22 forfattere av denne artikkelen] (2024). Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly. Communications Biology. 7(1). doi: 10.1038/s42003-024-06466-1. Fulltekst i vitenarkiv Vis sammendrag

  Microtubule associated proteins (MAPs) are widely expressed in the central nervous system, and have established roles in cell proliferation, myelination, neurite formation, axon specification, outgrowth, dendrite, and synapse formation. We report eleven individuals from seven families harboring predicted pathogenic biallelic, de novo, and heterozygous variants in the NAV3 gene, which encodes the microtubule positive tip protein neuron navigator 3 (NAV3). All affected individuals have intellectual disability (ID), microcephaly, skeletal deformities, ocular anomalies, and behavioral issues. In mouse brain, Nav3 is expressed throughout the nervous system, with more prominent signatures in postmitotic, excitatory, inhibiting, and sensory neurons. When overexpressed in HEK293T and COS7 cells, pathogenic variants impaired NAV3 ability to stabilize microtubules. Further, knocking-down nav3 in zebrafish led to severe morphological defects, microcephaly, impaired neuronal growth, and behavioral impairment, which were rescued with co-injection of WT NAV3 mRNA and not by transcripts encoding the pathogenic variants. Our findings establish the role of NAV3 in neurodevelopmental disorders, and reveal its involvement in neuronal morphogenesis, and neuromuscular responses.

• Misceo, Doriana; Lirussi, Lisa; Strømme, Petter; Sumathipala, Dulika Sanjeewani; Guerin, Andrea & Wolf, Nicole I [Vis alle 14 forfattere av denne artikkelen] (2023). A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis. Brain. ISSN 0006-8950. 146(8), s. 3513–3527. doi: 10.1093/brain/awad086. Fulltekst i vitenarkiv Vis sammendrag

  Abstract RNA polymerase I transcribes ribosomal DNA to produce precursor 47S rRNA. Post-transcriptional processing of this rRNA generates mature 28S, 18S and 5.8S rRNAs, which form the ribosomes, together with 5S rRNA, assembly factors and ribosomal proteins. We previously reported a homozygous variant in the catalytic subunit of RNA polymerase I, POLR1A, in two brothers with leukodystrophy and progressive course. However, the disease mechanism remained unknown. In this report, we describe another missense variant POLR1A NM_015425.3:c.1925C>A; p.(Thr642Asn) in homozygosity in two unrelated patients. Patient 1 was a 16-year-old male and Patient 2 was a 2-year-old female. Both patients manifested neurological deficits, with brain MRIs showing hypomyelinating leukodystrophy and cerebellar atrophy; and in Patient 1 additionally with hypointensity of globi pallidi and small volume of the basal ganglia. Patient 1 had progressive disease course, leading to death at the age of 16.5 years. Extensive in vitro experiments in fibroblasts from Patient 1 documented that the mutated POLR1A led to aberrant rRNA processing and degradation, and abnormal nucleolar homeostasis. Proteomics data analyses and further in vitro experiments documented abnormal protein homeostasis, and endoplasmic reticulum stress responses. We confirm that POLR1A biallelic variants cause neurodegenerative disease, expand the knowledge of the clinical phenotype of the disorder, and provide evidence for possible pathological mechanisms leading to POLR1A-related leukodystrophy.

• Misceo, Doriana; Senaratne, Lokuliyanage Dona Samudita; Mero, Inger-Lise; Sundaram, Arvind; Bjørnstad, Pål Marius & Szczałuba, Krzysztof [Vis alle 12 forfattere av denne artikkelen] (2023). Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome. Genes. 14(11), s. 1–11. doi: 10.3390/genes14111985. Fulltekst i vitenarkiv Vis sammendrag

  Strømme syndrome is an ultra-rare primary ciliopathy with clinical variability. The syndrome is caused by bi-allelic variants in CENPF, a protein with key roles in both chromosomal segregation and ciliogenesis. We report three unrelated patients with Strømme syndrome and, using high-throughput sequencing approaches, we identified novel pathogenic variants in CENPF, including one structural variant, giving a genetic diagnosis to the patients. Patient 1 was a premature baby who died at 26 days with congenital malformations affecting many organs including the brain, eyes, and intestine. She was homozygous for a donor splice variant in CENPF, NM_016343.3:c.1068+1G>A, causing skipping of exon 7, resulting in a frameshift. Patient 2 was a female with intestinal atresia, microcephaly, and a Peters anomaly. She had normal developmental milestones at the age of 7 years. She is compound heterozygous for CENPF NM_016343.3:c.5920dup and c.8991del, both frameshift. Patient 3 was a male with anomalies of the brain, eye, intestine, and kidneys. He was compound heterozygous for CENPF p.(Glu298Ter), and a 5323 bp deletion covering exon 1. CENPF exon 1 is flanked by repetitive sequences that may represent a site of a recurrent structural variation, which should be a focus in patients with Strømme syndrome of unknown etiology.

• Saida, Ken; Maroofian, Reza; Sengoku, Toru; Mitani, Tadahiro; Pagnamenta, Alistair T. & Marafi, Dana [Vis alle 87 forfattere av denne artikkelen] (2022). Brain monoamine vesicular transport disease caused by homozygous SLC18A2 variants: A study in 42 affected individuals. Genetics in Medicine. ISSN 1098-3600. 25(1), s. 90–102. doi: 10.1016/j.gim.2022.09.010. Fulltekst i vitenarkiv
• Cherik, Florian; Reilly, Jack; Kerkhof, Jennifer; Levy, Michael; McConkey, Haley & Barat-Houari, Mouna [Vis alle 34 forfattere av denne artikkelen] (2022). DNA methylation episignature in Gabriele-de Vries syndrome. Genetics in Medicine. ISSN 1098-3600. 24(4), s. 905–914. doi: 10.1016/j.gim.2021.12.003. Fulltekst i vitenarkiv
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Fattahi, Zohreh; Lüders, Torben; Sheng, Ying & Kahrizi, Kimia [Vis alle 20 forfattere av denne artikkelen] (2022). ZBTB11 dysfunction: Spectrum of brain abnormalities, biochemical signature and cellular consequences. Brain. ISSN 0006-8950. 145(7), s. 2602–2616. doi: 10.1093/brain/awac034. Fulltekst i vitenarkiv Vis sammendrag

  Abstract Bi-allelic pathogenic variants in ZBTB11 have been associated with intellectual developmental disorder, autosomal recessive 69 (MRT69; OMIM 618383). We report five patients from three families with novel, bi-allelic variants in ZBTB11. We have expanded the clinical phenotype of MRT69, documenting varied severity of atrophy affecting different brain regions and described combined malonic and methylmalonic aciduria as a biochemical manifestation. As ZBTB11 encodes for a transcriptional regulator, we performeded chromatin immunoprecipitation–sequencing targeting ZBTB11 in fibroblasts from patients and controls. Chromatin immunoprecipitation–sequencing revealed binding of wild-type ZBTB11 to promoters in 238 genes, among which genes encoding proteins involved in mitochondrial functions and RNA processing are over-represented. Mutated ZBTB11 showed reduced binding to 61 of the targeted genes, indicating that the variants act as loss of function. Most of these genes are related to mitochondrial functions. Transcriptome analysis of the patient fibroblasts revealed dysregulation of mitochondrial functions. In addition, we uncovered that reduced binding of the mutated ZBTB11 to ACSF3 leads to decreased ACSF3 transcript level, explaining combined malonic and methylmalonic aciduria. Collectively, these results expand the clinical spectrum of ZBTB11-related neurological disease and give insight into the pathophysiology in which the dysfunctional ZBTB11 affect mitochondrial functions and RNA processing contributing to the neurological and biochemical phenotypes.

• Pelletier, Félixe; Perrier, Stefanie; Cayami, Ferdy K.; Mirchi, Amytice; Saikali, Stephan & Tran, Luan T. [Vis alle 119 forfattere av denne artikkelen] (2021). Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. Journal of Clinical Endocrinology and Metabolism (JCEM). ISSN 0021-972X. 106(2), s. E660–E674. doi: 10.1210/clinem/dgaa700. Fulltekst i vitenarkiv Vis sammendrag

  Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. Objective To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. Design An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. Setting This was a multicenter retrospective study using information collected from 3 predominant centers. Patients A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. Main Outcome Measures Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. Results The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. Conclusions Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder.

• Strømme, Petter (2021). Sint nikkedukke – nevrologisk syndrom i en kriminalroman. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 141(5), s. 1–8. doi: 10.4045/tidsskr.20.0729. Fulltekst i vitenarkiv
• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Einarsen, Ingunn Holm; Bjørndalen, Hilde & Server, Andrés [Vis alle 11 forfattere av denne artikkelen] (2020). Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. BMC Medical Genetics. 21:96, s. 1–6. doi: 10.1186/s12881-020-01024-y. Fulltekst i vitenarkiv Vis sammendrag

  Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia, psychomotor delay, and cerebellar ataxia. Cerebral MRI shows mid- and hindbrain anomalies including the molar tooth sign. We report a male patient with atypical presentation of Joubert syndrome type 23, thus expanding the phenotype. Case presentation Clinical features were consistent with JBTS already from infancy, yet the syndrome was not suspected before cerebral MRI later in childhood showed the characteristic molar tooth sign and ectopic neurohypophysis. From age 11 years seizures developed and after few years became increasingly difficult to treat, also related to inadequate compliance to therapy. He died at 23 years of sudden unexpected death in epilepsy (SUDEP). The genetic diagnosis remained elusive for many years, despite extensive genetic testing. We reached the genetic diagnosis by performing whole genome sequencing of the family trio and analyzing the data with the combination of one analysis pipeline for single nucleotide variants (SNVs)/indels and one for structural variants (SVs). This lead to the identification of the most common variant detected in patients with JBTS23 (OMIM# 616490), rs534542684, in compound heterozygosity with a 8.3 kb deletion in KIAA0586, not previously reported. Conclusions We describe for the first time ectopic neurohypophysis and SUDEP in JBTS23, expanding the phenotype of this condition and raising the attention on the possible severity of the epilepsy in this disease. We also highlight the diagnostic power of WGS, which efficiently detects SNVs/indels and in addition allows the identification of SVs.

• Sumathipala, Dulika Sanjeewani; Misceo, Doriana; Larsen, Selma Mujezinovic; Barøy, Tuva; Gamage, Thilini H. & Frengen, Eirik [Vis alle 7 forfattere av denne artikkelen] (2020). A girl with a neurodevelopmental syndrome, adducted thumbs and frequent infections caused by novel homozygous variant in DEAF1. Clinical Dysmorphology. ISSN 0962-8827. 29(2), s. 107–110. doi: 10.1097/MCD.0000000000000314. Fulltekst i vitenarkiv
• Epting, Daniel; Senaratne, Lokuliyanage Dona Samudita; Ott, Elisabeth; Holmgren, Asbjørn; Sumathipala, Dulika Sanjeewani & Larsen, Selma Mujezinovic [Vis alle 30 forfattere av denne artikkelen] (2020). Loss of CBY1 results in a ciliopathy characterized by features of Joubert syndrome. Human Mutation. ISSN 1059-7794. s. 1–16. doi: 10.1002/humu.24127. Fulltekst i vitenarkiv
• Filges, Isabel & Strømme, Petter (2019). CUGC for Stromme syndrome and CENPF-related disorders. European Journal of Human Genetics. ISSN 1018-4813. 28, s. 132–136. doi: 10.1038/s41431-019-0498-y. Fulltekst i vitenarkiv
• Bjurulf, Bjørn; Magnus, Per; Hallböök, Tove & Strømme, Petter (2019). Potassium citrate and metabolic acidosis in children with epilepsy on the ketogenic diet: a prospective controlled study. Developmental Medicine & Child Neurology. ISSN 0012-1622. 62(1), s. 57–61. doi: 10.1111/dmcn.14393. Fulltekst i vitenarkiv
• Strømme, Petter; Groeneweg, Stefan; Souza, Elaine C. Lima de; Zevenbergen, Chantal; Torgersbråten, Anette & Holmgren, Asbjørn [Vis alle 17 forfattere av denne artikkelen] (2018). Mutated thyroid hormone transporter OATP1C1 associates with severe brain hypometabolism and juvenile neurodegeneration. Thyroid. ISSN 1050-7256. 28(11), s. 1406–1415. doi: 10.1089/thy.2018.0595. Fulltekst i vitenarkiv Vis sammendrag

  Background: Thyroid hormones (TH) are essential for brain development and function. The TH transporters monocarboxylate transporter 8 (MCT8) and organic anion transporter1 C1 (OATP1C1) facilitate the transport of TH across the blood–brain barrier and into glia and neuronal cells in the brain. Loss of MCT8 function causes Allan–Herndon–Dudley syndrome (AHDS, OMIM 300523) characterized by severe intellectual and motor disability due to cerebral hypothyroidism. Here, the first patient with loss of OATP1C1 function is described. The patient is a 15.5-year-old girl with normal development in the first year of life, who gradually developed dementia with spasticity and intolerance to cold. Brain imaging demonstrated gray and white matter degeneration and severe glucose hypometabolism. Methods: Exome sequencing of the patient and parents was performed to identify the disease-causing mutation, and the effect of the mutation was studied through a panel of in vitro experiments, including thyroxine uptake studies, immunoblotting, and immunocytochemistry. Furthermore, the clinical effects of treatment with the triiodothyronine analogue triiodothyroacetic acid (Triac) are described. Results: Exome sequencing identified a homozygous missense mutation in OATP1C1, changing the highly conserved aspartic acid 252 to asparagine (D252N). In vitro, the mutated OATP1C1 displays impaired plasma membrane localization and decreased cellular thyroxine uptake. After treatment with Triac, the clinical condition improved in several domains. Conclusions: This is the first report of human OATP1C1 deficiency compatible with brain-specific hypothyroidism and neurodegeneration.

• Kotlarz, Daniel; Marquardt, Benjamin; Barøy, Tuva; Lee, Way S.; Konnikova, Liza & Hollizeck, Sebastian [Vis alle 24 forfattere av denne artikkelen] (2018). Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy. Nature Genetics. ISSN 1061-4036. 50(3), s. 344–348. doi: 10.1038/s41588-018-0063-6. Fulltekst i vitenarkiv Vis sammendrag

  Transforming growth factor (TGF)-β1 (encoded by TGFB1) is the prototypic member of the TGF-β family of 33 proteins that orchestrate embryogenesis, development and tissue homeostasis1,2. Following its discovery3, enormous interest and numerous controversies have emerged about the role of TGF-β in coordinating the balance of pro- and anti-oncogenic properties4,5, pro- and anti-inflammatory effects6, or pro- and anti-fibrinogenic characteristics7. Here we describe three individuals from two pedigrees with biallelic loss-of-function mutations in the TGFB1 gene who presented with severe infantile inflammatory bowel disease (IBD) and central nervous system (CNS) disease associated with epilepsy, brain atrophy and posterior leukoencephalopathy. The proteins encoded by the mutated TGFB1 alleles were characterized by impaired secretion, function or stability of the TGF-β1–LAP complex, which is suggestive of perturbed bioavailability of TGF-β1. Our study shows that TGF-β1 has a critical and nonredundant role in the development and homeostasis of intestinal immunity and the CNS in humans.

• Platzer, Konrad; Yuan, Hongjie; Schütz, Hannah; Winschel, Alexander; Chen, Wenjuan & Hu, Chun [Vis alle 75 forfattere av denne artikkelen] (2017). GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. Journal of Medical Genetics. ISSN 0022-2593. 54(7), s. 460–470. doi: 10.1136/jmedgenet-2016-104509. Fulltekst i vitenarkiv Vis sammendrag

  Background: We aimed for a comprehensive delineation of genetic, functional and phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of personalised medicine. Methods: Data of 48 individuals with de novo GRIN2B variants were collected from several diagnostic and research cohorts, as well as from 43 patients from the literature. Functional consequences and response to memantine treatment were investigated in vitro and eventually translated into patient care. Results: Overall, de novo variants in 86 patients were classified as pathogenic/likely pathogenic. Patients presented with neurodevelopmental disorders and a spectrum of hypotonia, movement disorder, cortical visual impairment, cerebral volume loss and epilepsy. Six patients presented with a consistent malformation of cortical development (MCD) intermediate between tubulinopathies and polymicrogyria. Missense variants cluster in transmembrane segments and ligand-binding sites. Functional consequences of variants were diverse, revealing various potential gain-of-function and loss-of-function mechanisms and a retained sensitivity to the use-dependent blocker memantine. However, an objectifiable beneficial treatment response in the respective patients still remains to be demonstrated. Conclusions: In addition to previously known features of intellectual disability, epilepsy and autism, we found evidence that GRIN2B encephalopathy is also frequently associated with movement disorder, cortical visual impairment and MCD revealing novel phenotypic consequences of channelopathies.

• Gabriele, Michele; Silfhout, Anneke T. Vulto-van; Germain, Pierre-Luc; Vitriolo, Alessandro; Kumar, Raman & Douglas, Evelyn [Vis alle 51 forfattere av denne artikkelen] (2017). YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction. American Journal of Human Genetics. ISSN 0002-9297. 100(6), s. 907–925. doi: 10.1016/j.ajhg.2017.05.006. Fulltekst i vitenarkiv Vis sammendrag

  Yin and yang 1 (YY1) is a well-known zinc-finger transcription factor with crucial roles in normal development and malignancy. YY1 acts both as a repressor and as an activator of gene expression. We have identified 23 individuals with de novo mutations or deletions of YY1 and phenotypic features that define a syndrome of cognitive impairment, behavioral alterations, intrauterine growth restriction, feeding problems, and various congenital malformations. Our combined clinical and molecular data define “YY1 syndrome” as a haploinsufficiency syndrome. Through immunoprecipitation of YY1-bound chromatin from affected individuals’ cells with antibodies recognizing both ends of the protein, we show that YY1 deletions and missense mutations lead to a global loss of YY1 binding with a preferential retention at high-occupancy sites. Finally, we uncover a widespread loss of H3K27 acetylation in particular on the YY1-bound enhancers, underscoring a crucial role for YY1 in enhancer regulation. Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators.

• Barøy, Tuva; Jesuthasan, Christeen Ramane Pedurupillay; Bliksrud, Yngve Thomas; Rasmussen, Magnhild; Holmgren, Asbjørn & Vigeland, Magnus Dehli [Vis alle 13 forfattere av denne artikkelen] (2016). A novel mutation in FBXL4 in a Norwegian child with encephalomyopathic mitochondrial DNA depletion syndrome 13. European Journal of Medical Genetics. ISSN 1769-7212. 59(6-7), s. 342–346. doi: 10.1016/j.ejmg.2016.05.005. Fulltekst i vitenarkiv
• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Vis alle 19 forfattere av denne artikkelen] (2016). Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(4), s. 359–363. doi: 10.1002/humu.22960. Fulltekst i vitenarkiv
• Lemke, Johannes R.; Geider, Kirsten; Helbig, Katherine L.; Heyne, Henrike O.; Schutz, Hannah & Hentschel, Julia [Vis alle 58 forfattere av denne artikkelen] (2016). Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy. Neurology. ISSN 0028-3878. 86(23), s. 2171–2178. doi: 10.1212/WNL.0000000000002740. Fulltekst i vitenarkiv
• Jesuthasan, Christeen Ramane Pedurupillay; Landsend, Erlend Christoffer Sommer; Vigeland, Magnus Dehli; Ansar, Muhammad; Frengen, Eirik & Misceo, Doriana [Vis alle 7 forfattere av denne artikkelen] (2016). Segregation of incomplete achromatopsia and alopecia due to PDE6H and LPAR6 variants in a consanguineous family from Pakistan. Genes. 7(8). doi: 10.3390/genes7080041. Fulltekst i vitenarkiv Vis sammendrag

  We report on two brothers with visual impairment, and non-syndromic alopecia in the elder proband. The parents were first-degree Pakistani cousins. Whole exome sequencing of the elder brother and parents, followed by Sanger sequencing of all four family members, led to the identification of the variants responsible for the two phenotypes. One variant was a homozygous nonsense variant in the inhibitory subunit of the cone-specific cGMP phosphodiesterase gene, PDE6H:c.35C>G (p.Ser12*). PDE6H is expressed in the cones of the retina, which are involved in perception of color vision. This is the second report of a homozygous PDE6H:c.35C>G variant causing incomplete achromatopsia (OMIM 610024), thus strongly supporting the hypothesis that loss-of-function variants in PDE6H cause this visual deficiency phenotype. The second variant was a homozygous missense substitution in the lysophosphatidic acid receptor 6, LPAR6:c.188A>T (p.Asp63Val). LPAR6 acts as a G-protein-coupled receptor involved in hair growth. Biallelic loss-of-function variants in LPAR6 cause hypotrichosis type 8 (OMIM 278150), with or without woolly hair, a form of non-syndromic alopecia. Biallelic LPAR6:c.188A>T was previously described in five families from Pakistan.

• Skauli, Nadia; Wallace, Sean Ciaran; Chiang, Samuel C.C.; Barøy, Tuva; Holmgren, Asbjørn & Stray-Pedersen, Asbjørg [Vis alle 10 forfattere av denne artikkelen] (2016). Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype. Genes. 7(12). doi: 10.3390/genes7120108. Fulltekst i vitenarkiv Vis sammendrag

  Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI) transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

• Jesuthasan, Christeen Ramane Pedurupillay; Amundsen, Svanstrøm Silja; Barøy, Tuva; Rasmussen, Magnhild; Blomhoff, Anne & Stadheim, Barbro [Vis alle 12 forfattere av denne artikkelen] (2016). Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. Neuromuscular Disorders. ISSN 0960-8966. 26(9), s. 570–575. doi: 10.1016/j.nmd.2016.06.457. Fulltekst i vitenarkiv
• Roosing, Susanne; Hofree, Matan; Kim, Sehyun; Scott, Eric; Copeland, Brett & Romani, Marta [Vis alle 44 forfattere av denne artikkelen] (2015). Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. eLIFE. 4(MAY), s. 1–37. doi: 10.7554/eLife.06602. Fulltekst i vitenarkiv
• Hope, Sigrun; Johannessen, Christen Horn; Aanonsen, Nils Olav & Strømme, Petter (2015). The investigation of inborn errors of metabolism as an underlying cause of idiopathic intellectual disability in adults in Norway. European Journal of Neurology. ISSN 1351-5101. 23(51), s. 36–44. doi: 10.1111/ene.12884. Fulltekst i vitenarkiv
• Barøy, Tuva; Koster, Janet; Strømme, Petter; Ebberink, Merel S.; Misceo, Doriana & Ferdinandusse, Sacha [Vis alle 18 forfattere av denne artikkelen] (2015). A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Human Molecular Genetics. ISSN 0964-6906. 24(20), s. 5845–5854. doi: 10.1093/hmg/ddv305. Fulltekst i vitenarkiv
• Ramane, Pedurupillay Jesuthasan Christeen; Barøy, Tuva; Holmgren, Asbjørn; Blomhoff, Anne; Vigeland, Magnus Dehli & Sheng, Ying [Vis alle 9 forfattere av denne artikkelen] (2015). Kaufman oculocerebrofacial syndrome in sisters with novel compound heterozygous mutation in UBE3B. American Journal of Medical Genetics. Part A. ISSN 1552-4825. 167(3), s. 657–663. doi: 10.1002/ajmg.a.36944. Fulltekst i vitenarkiv
• Wolf, Nicole I.; Vanderver, Adeline; Spaendonk, R.M. van; Schiffmann, Raphael; Brais, B. & Bugiani, Massimiliano [Vis alle 21 forfattere av denne artikkelen] (2014). Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology. ISSN 0028-3878. 83(21), s. 1898–1905. doi: 10.1212/WNL.0000000000001002. Fulltekst i vitenarkiv
• Møller, R.S.; Jensen, L.R.; Maas, S.M.; Filmus, J.; Capurro, M & Hansen, C [Vis alle 31 forfattere av denne artikkelen] (2014). X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. Human Genetics. ISSN 0340-6717. 133(5), s. 625–638. doi: 10.1007/s00439-013-1403-3. Fulltekst i vitenarkiv
• Strømme, Kirsten Kierulf; Strømme, Petter; Bjertness, Espen & Lien, Lars (2014). Intrauterine growth restriction: A population-based study of the association with academic performance and psychiatric health. Acta Paediatrica. ISSN 0803-5253. 103(8), s. 886–891. doi: 10.1111/apa.12657. Fulltekst i vitenarkiv Vis sammendrag

  To investigate whether intrauterine growth restriction (IUGR), resulting in small for gestational age (SGA) infants, is associated with increased susceptibility to psychiatric problems and academic impairment in late teens. A cohort of all 10th-grade students in Oslo, Norway, followed up between 2001 and 2004 (n = 2131), was linked with foetal growth data. IUGR was considered equal to SGA at the lowest 2.5th, 5th, and 10th percentiles and appropriate for gestational age (AGA) as the highest 90th percentile. Mental health was evaluated using the Hopkins Symptoms Check List and the Strength and Difficulties Questionnaire, and academic achievements and ambitions were self-reported by the students.Psychiatric problems were equally prevalent in all groups. However, the SGA girls performed inferiorly compared to their AGA peers in the school subjects English [3.6 vs 3.9 (p = 0.03)], mathematics [4.0 vs 4.3 (p = 0.01)] and social science [4.2 vs 4.4 (p = 0.05)], but not for Norwegian. This association was not observed in boys. There was an association between academic impairment and prematurity, occurring more frequently among immigrants (p < 0.001). SGA had a small negative impact on academic achievements in adolescent girls, but not boys. There was no association between SGA and psychiatric problems in either gender

• Barøy, Tuva; Misceo, Doriana; Strømme, Petter; Stray-Pedersen, Asbjørg; Holmgren, Asbjørn & Rødningen, Olaug Kristin [Vis alle 12 forfattere av denne artikkelen] (2013). Haploinsufficiency of two histone modifier genes on 6p22.3, ATXN1 and JARID2, is associated with intellectual disability. Orphanet Journal of Rare Diseases. 8. doi: 10.1186/1750-1172-8-3. Fulltekst i vitenarkiv
• Selmer, Kaja Kristine; Gilfillan, Gregor Duncan; Strømme, Petter; Lyle, Robert; Hughes, Timothy & Hjorthaug, Hanne Sagsveen [Vis alle 13 forfattere av denne artikkelen] (2012). A mild form of Mucopolysaccharidosis IIIB diagnosed with targeted next-generation sequencing of linked genomic regions. European Journal of Human Genetics. ISSN 1018-4813. 20(1), s. 58–63. doi: 10.1038/ejhg.2011.126. Fulltekst i vitenarkiv
• Strømme, Petter; Dobrenis, Kostantin; Sillitoe, Roy V.; Gulinello, Maria; Ali, Nafeeza F. & Davidson, Christin [Vis alle 11 forfattere av denne artikkelen] (2011). X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction. Brain. ISSN 0006-8950. 134, s. 3369–3383. doi: 10.1093/brain/awr250. Fulltekst i vitenarkiv
• Misceo, Doriana; Rødningen, Olaug Kristin; Barøy, Tuva; Sorte, Hanne Sørmo; Mellembakken, Jan Roar & Strømme, Petter [Vis alle 8 forfattere av denne artikkelen] (2011). A Translocation Between Xq21.33 and 22q13.33 Causes an Intragenic SHANK3 Deletion in a Woman With Phelan-McDermid Syndrome and Hypergonadotropic Hypogonadism. American Journal of Medical Genetics. ISSN 0148-7299. 155(2), s. 403–408. doi: 10.1002/ajmg.a.33798. Fulltekst i vitenarkiv
• Barøy, Tuva; Misceo, Doriana; Braaten, Øivind; Helle, Johan Robert; Fannemel, Madeleine & Strømme, Petter [Vis alle 7 forfattere av denne artikkelen] (2010). A de novo 15q13.2q13.3 deletion in a boy with an Angelman syndrome like phenotype. European Journal of Medical Genetics. ISSN 1769-7212. 53(4), s. 221–224. doi: 10.1016/j.ejmg.2010.03.010. Fulltekst i vitenarkiv
• Schroer, RJ; Holden, Kenton R.; Tarpey, Patrick; Matheus, MG; Griesemer, DA & Friez, MJ [Vis alle 12 forfattere av denne artikkelen] (2010). Natural History of Christianson Syndrome. American Journal of Medical Genetics. ISSN 0148-7299. 152A(11), s. 2775–2783. doi: 10.1002/ajmg.a.33093. Fulltekst i vitenarkiv
• Strømme, P; Surén, Pål; Kanavin, ØJ; Rootwelt, T; Woldseth, Bente & Abdelnoor, Michael [Vis alle 7 forfattere av denne artikkelen] (2010). Parental consanguinity is associated with a seven-fold increased risk of progressive encephalopathy: A cohort study from Oslo, Norway. European journal of paediatric neurology. ISSN 1090-3798. 14(2), s. 138–145. doi: 10.1016/j.ejpn.2009.03.007. Fulltekst i vitenarkiv
• Roxrud, Ingrid; Raiborg, Camilla; Gilfillan, Gregor Duncan; Strømme, Petter & Stenmark, Harald Alfred (2009). Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease. Experimental Cell Research. ISSN 0014-4827. 315(17), s. 3014–3027. doi: 10.1016/j.yexcr.2009.07.012. Fulltekst i vitenarkiv
• Misceo, Doriana; Fannemel, Madeleine; Barøy, Tuva; Roberto, Roberta; Tvedt, B & Jaeger, T [Vis alle 9 forfattere av denne artikkelen] (2009). SCA27 caused by a chromosome translocation: further delineation of the phenotype. Neurogenetics. ISSN 1364-6745. 10(4), s. 371–374. doi: 10.1007/s10048-009-0197-x. Fulltekst i vitenarkiv
• Bjurulf, B; Spetalen, S; Erichsen, A; Vanier, MT; Strom, EH & Strømme, Petter (2008). Niemann-Pick disease type C2 presenting as fatal pulmonary alveolar lipoproteinosis: Morphological findings in lung and nervous tissue. Medical Science Monitor. ISSN 1234-1010. 14, s. CS71–CS75. Fulltekst i vitenarkiv
• Gilfillan, Gregor Duncan; Selmer, Kaja Kristine; Roxrud, Ingrid; Smith, Raffaella; Kyllerman, Mårten & Eiklid, Kristin Louise [Vis alle 27 forfattere av denne artikkelen] (2008). SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome. American Journal of Human Genetics. ISSN 0002-9297. 82(4), s. 1003–1010. doi: 10.1016/j.ajhg.2008.01.013. Fulltekst i vitenarkiv
• Strømme, Petter; Magnus, Per; Kanavin, Øivind J.; Rootwelt, Terje; Woldseth, Berit & Abdelnoor, Michael (2008). Mortality in childhood progressive encephalopathy from 1985 to 2004 in Oslo, Norway: a population-based study. Acta Paediatrica. ISSN 0803-5253. 97(1), s. 35–40. doi: 10.1111/j.1651-2227.2007.00579.x. Fulltekst i vitenarkiv
• Strømme, Petter; Kanavin, Øivind Juris; Abdelnoor, Michael; Woldseth, Berit; Rootwelt, Terje & Diderichsen, Jørgen [Vis alle 9 forfattere av denne artikkelen] (2007). Incidence rates of progressive childhood encephalopathy in Oslo, Norway: a population based study. BMC Pediatrics. 7. doi: 10.1186/1471-2431-7-25. Fulltekst i vitenarkiv Vis sammendrag

  Background Progressive encephalopathy (PE) in children is a heterogeneous group of diseases mainly composed of metabolic diseases, but it consists also of neurodegenerative disorders where neither metabolic nor other causes are found. We wanted to estimate the incidence rate and aetiology of PE, as well as the age of onset of the disease. Methods We included PE cases born between 1985 and 2003, living in Oslo, and registered the number presenting annually between 1985 and 2004. Person-years at risk between 0 and 15 years were based on the number of live births during the observation period which was divided into four 5-year intervals. We calculated incidence rates according to age at onset which was classified as neonatal (0–4 weeks), infantile (1–12 months), late infantile (1–5 years), and juvenile (6–12 years). Results We found 84 PE cases representing 28 diagnoses among 1,305,997 person years, giving an incidence rate of 6.43 per 100,000 person years. The age-specific incidence rates per 100,000 were: 79.89 (<1 year), 8.64 (1–2 years), 1.90 (2–5 years), and 0.65 (>5 years). 66% (55/84) of the cases were metabolic, 32% (27/54) were neurodegenerative, and 2% (2/84) had HIV encephalopathy. 71% (60/84) of the cases presented at < 1 year, 24% (20/84) were late infantile presentations, and 5% (4/84) were juvenile presentations. Neonatal onset was more common in the metabolic (46%) (25/55) compared to the neurodegenerative group (7%) (2/27). 20% (17/84) of all cases were classified as unspecified neurodegenerative disease. Conclusion The overall incidence rate of PE was 6.43 per 100,000 person years. There was a strong reduction in incidence rates with increasing age. Two-thirds of the cases were metabolic, of which almost half presented in the neonatal period.

• Kanavin, Øivind Juris; Woldseth, Berit; Jellum, Egil; Tvedt, Bjørn; Andresen, Brage S & Strømme, Petter (2007). 2-methylbutyryl-CoA dehydrogenase deficiency associated with autism and mental retardation: a case report. Journal of Medical Case Reports. Fulltekst i vitenarkiv
• Ørstavik, Karen Helene; Knudsen, Gun Peggy Strømstad; Nordgarden, Hilde; Ormerod, Eli; Strømme, Petter & Lazarou, Lazarous P [Vis alle 9 forfattere av denne artikkelen] (2007). Severe hypohidrotic ectodermal dysplasia in a girl caused by a de novo 9;X insertion that includes XIST and disrupts the EDA gene. American Journal of Medical Genetics. ISSN 0148-7299. 143(13), s. 1510–1513. Fulltekst i vitenarkiv
• Kleppa, Liv; Kanavin, Øivind Juris; Klungland, Arne & Strømme, Petter (2007). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. 4, s. 1397–1406. doi: 10.1016/j.neuroscience.2006.09.025. Fulltekst i vitenarkiv
• Kleppa, Liv; Kanavin, Ø.J; Klungland, Arne & Strømme, Petter (2006). A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome. Neuroscience. ISSN 0306-4522. doi: 10.1016/j.neuroscience. Fulltekst i vitenarkiv
• Strømme, Petter; Hagen, Carl Birger van der; Haakonsen, Monica; Risberg, Knut & Hennekam, Raoul (2005). Follow-up of a girl with cleft lip and palate and multiple malformations: Trisomy 20 mosaicism. Scandinavian Journal of Plastic and Reconstructive Surgery and Hand Surgery. ISSN 0284-4311. 39, s. 178–179. Fulltekst i vitenarkiv
• Matlary, Arpad; Prescott, Trine; Tvedt, B; Lindberg, Knut; Server, Andres Alonso & Aicardi, Jean [Vis alle 7 forfattere av denne artikkelen] (2004). Aicardi syndrome in a girl with mild developmental delay, absence of epilepsy and normal EEG. Clinical Dysmorphology. ISSN 0962-8827. 13(4), s. 257–260. Fulltekst i vitenarkiv
• Strømme, Petter; Sundet, Kjetil Søren; Mørk, Cato; Cassiman, J-J.; Fryns, J-P. & Claes, S. (1999). X linked mental retardation and infantile spasms in a family: new clinical data and linkage to Xp11.4-Xp22.11. Journal of Medical Genetics. ISSN 0022-2593. 36(5), s. 374–378. Fulltekst i vitenarkiv

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• Sumathipala, Dulika Sanjeewani; Strømme, Petter; Gilissen, Christian; Corominas, Jordi; Frengen, Eirik & Misceo, Doriana (2019). TBCK encephaloneuropathy with abnormal lysosomal storage: Use of a structural variant bioinformatics pipeline on whole-genome sequencing data unravels a 20-year-old clinical mystery. Pediatric Neurology. ISSN 0887-8994. 96, s. 74–75. doi: 10.1016/j.pediatrneurol.2019.02.001. Fulltekst i vitenarkiv
• Filges, Isabel; Bruder, Elisabeth; Brandal, Kristin; Meier, Stephanie; Undlien, Dag Erik & Waage, Trine Rygvold [Vis alle 19 forfattere av denne artikkelen] (2016). Erratum to: Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF. Human Mutation. ISSN 1059-7794. 37(7), s. 711–711. doi: 10.1002/humu.22997. Fulltekst i vitenarkiv
• Lee, AK; Dervola, KS; Jensen, V; Roberg, BÅ; Nielsen, MJ & Strømme, Petter [Vis alle 8 forfattere av denne artikkelen] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Fulltekst i vitenarkiv
• Jensen, Vidar; Dervola, KS; Lee, Anee Karin; Hvalby, OC; Roberg, BÅ & Nielsen, MJ [Vis alle 7 forfattere av denne artikkelen] (2013). Different subcellular distributions of AMPA and NMDA receptor subunits in two rat models of cognitive dysfunctions. Fulltekst i vitenarkiv
• SLETTEDAL, IMER ØNDER; DAHL, HILDE MARGRETE; Sandvig, Inger; Dalmau, Josep & Strømme, Petter (2012). Ung jente med psykose, kognitiv svikt og kramper. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 132(18), s. 2073–2076. doi: 10.4045/tidsskr.12.0092. Fulltekst i vitenarkiv
• Kanavin, Øivind J. & Strømme, Petter (2010). Barn med nevrodegenerativ sykdom :. 130(15), s. 1489–1492. Fulltekst i vitenarkiv
• Barøy, Tuva; Misceo, Doriana; Fannemel, Madeleine; Stormyr, Alice; Rødningen, Olaug Kristin & Helle, Johan Robert [Vis alle 12 forfattere av denne artikkelen] (2010). Two girls with mental retardation and behavioural abnormalities: Is the deletion of the ATXN1 gene on 6p22.3 a major factor in causing the phenotype? Fulltekst i vitenarkiv
• Strømme, Petter (2008). Mental retardasjon. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 128(7), s. 841–841. Fulltekst i vitenarkiv
• Strømme, Petter (2008). Artistisk kreativitet og Huntingtons sykdom. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 128(19), s. 2226–2226. Fulltekst i vitenarkiv

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