jeaneko

• Prestsæter, Sjur; Koht, Jeanette; Berland, Siren; Høyer, Helle; Selmer, Kaja Kristine & Vedeler, Christian Alexander [Vis alle 11 forfattere av denne artikkelen] (2026). RFC1 Spectrum Disorder in a Norwegian CANVAS Cohort. Acta Neurologica Scandinavica. ISSN 0001-6314. doi: 10.1155/ane/6613732. Fulltekst i vitenarkiv Vis sammendrag

  Background: Late‐onset cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a progressive neurodegenerative disorder defined by sensory neuropathy, cerebellar ataxia, and bilateral vestibulopathy. While each symptom impairs balance, their combination causes substantial disability. The most common cause is a biallelic intronic repeat expansion in RFC1 , now recognized as a frequent etiology of late‐onset cerebellar ataxia. Objective: The objective of this study is to describe the phenotype, clinical course, and genetic profile of a Norwegian cohort with genetically confirmed CANVAS. Methods: Patients with late‐onset progressive ataxia, without a prior molecular diagnosis, and with at least one additional CANVAS‐associated feature were screened for the RFC1 (AAGGG) repeat expansions. Individuals with confirmed biallelic expansions underwent detailed clinical evaluation. Results: Among the 162 patients tested, 44 (27%) carried biallelic RFC1 expansions. Thirty‐two were clinically assessed, and one additional patient with compound heterozygosity (expansion plus truncating variant) was included. All but one (32/33) exhibited the characteristic triad. Mean age at symptom onset was 50.3 years (range 40–70). All demonstrated additional features beyond the triad, most commonly chronic cough (97%), bulbar dysfunction (85%), and dysautonomia (70%). Limb dystonia, not previously associated with RFC1 ‐related disease, occurred in two patients (6%). Aspiration pneumonia was the predominant cause of death (7/9, 80%). Conclusion: Our results shed light on the clinical course of CANVAS and expand its phenotypic spectrum. They underscore frequent bulbar dysfunction, dysautonomia, and the risk of aspiration pneumonia, while identifying limb dystonia as a novel manifestation of RFC1 ‐related disease.

• Dahl-Hansen, Eline; Bjørk, Marte-Helene; Wollertsen, Yvonne Myrtvedt; Pesonen, Henri; Gilhus, Nils Erik & Koht, Jeanette [Vis alle 9 forfattere av denne artikkelen] (2026). Needs-based epilepsy follow-up: seizure control, treatment adherence and patient care. Epilepsy & Behavior. ISSN 1525-5050. 182. doi: 10.1016/j.yebeh.2026.111088. Fulltekst i vitenarkiv
• Bøen, Erlend; Myren, Sverre; Wendel-Haga, Marte; Koht, Jeanette; Svalheim, Sigrid & Sveberg, Line [Vis alle 10 forfattere av denne artikkelen] (2025). Funksjonell nevrologisk lidelse. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 145. doi: 10.4045/tidsskr.24.0574. Fulltekst i vitenarkiv
• Hagberg, Guri; Skytøen, Emilie Ranheim; Nakstad, Ingvild; O_Sullivan, Kristin; Koht, Jeanette & Johansen, Tone Kristin Bjordal [Vis alle 8 forfattere av denne artikkelen] (2024). Iatrogen botulisme. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 144(2), s. 1–5. doi: 10.4045/tidsskr.23.0625. Fulltekst i vitenarkiv
• Stenshorne, Ida; Syvertsen, Marte Roa; Ramm-Pettersen, Anette; Selmer, Kaja Kristine; Koht, Jeanette & Henriksen, Mari Wold (2024). Impact of genetic testing in developmental and epileptic encephalopathy– parents’ perspective. Epilepsy & Behavior. ISSN 1525-5050. 163. doi: 10.1016/j.yebeh.2024.110174. Fulltekst i vitenarkiv
• Shakeshaft, Amy; Panjwani, Naim; Collingwood, Amber; Crudgington, Holly; Hall, Anna & Andrade, Danielle M. [Vis alle 27 forfattere av denne artikkelen] (2022). Sex-specific disease modifiers in juvenile myoclonic epilepsy. Scientific Reports. 12(1). doi: 10.1038/s41598-022-06324-2. Fulltekst i vitenarkiv
• Stenshorne, Ida; Syvertsen, Marte Roa; Ramm-Pettersen, Anette; Henning, Susanne; Weatherup, Elisabeth & Bjørnstad, Alf [Vis alle 10 forfattere av denne artikkelen] (2022). Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway. Frontiers in Pediatrics. 10, s. 1–13. doi: 10.3389/fped.2022.965282. Fulltekst i vitenarkiv Vis sammendrag

  Introduction Developmental and epileptic encephalopathies (DEE) is a group of epilepsies where the epileptic activity, seizures and the underlying neurobiology contributes to cognitive and behavioral impairments. Uncovering the causes of DEE is important in order to develop guidelines for treatment and follow-up. The aim of the present study was to describe the clinical picture and to identify genetic causes in a patient cohort with DEE without known etiology, from a Norwegian regional hospital. Methods Systematic searches of medical records were performed at Drammen Hospital, Vestre Viken Health Trust, to identify patients with epilepsy in the period 1999–2018. Medical records were reviewed to identify patients with DEE of unknown cause. In 2018, patients were also recruited consecutively from treating physicians. All patients underwent thorough clinical evaluation and updated genetic diagnostic analyses. Results Fifty-five of 2,225 patients with epilepsy had DEE of unknown etiology. Disease-causing genetic variants were found in 15/33 (45%) included patients. Three had potentially treatable metabolic disorders ( SLC2A1, COQ4 and SLC6A8 ). Developmental comorbidity was higher in the group with a genetic diagnosis, compared to those who remained undiagnosed. Five novel variants in known genes were found, and the patient phenotypes are described. Conclusion The results from this study illustrate the importance of performing updated genetic investigations and/or analyses in patients with DEE of unknown etiology. A genetic cause was identified in 45% of the patients, and three of these patients had potentially treatable conditions where available targeted therapy may improve patient outcome.

• Keller, Mareike; Brennenstuhl, Heiko; Hübschmann, Oya Kuseyri; Manti, Filippo; Palacios, Natalia Alexandra Julia & Friedman, Jennifer [Vis alle 39 forfattere av denne artikkelen] (2021). Assessment of intellectual impairment, health-related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry. The Journal of Inherited Metabolic Disease (JIMD). ISSN 0141-8955. 44(6), s. 1489–1502. doi: 10.1002/jimd.12416. Fulltekst i vitenarkiv
• Hübschmann, Oya Kuseyri; Mohr, Alexander; Friedman, Jennifer; Manti, Filippo; Horvath, Gabriella & Cortès-Saladelafont, Elisenda [Vis alle 32 forfattere av denne artikkelen] (2021). Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients. The Journal of Inherited Metabolic Disease (JIMD). ISSN 0141-8955. 44(4), s. 1070–1082. doi: 10.1002/jimd.12360. Fulltekst i vitenarkiv
• König, Marton & Koht, Jeanette (2021). Ensidig rødme eller ensidig blekhet? Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 141(12), s. 1–3. doi: 10.4045/tidsskr.21.0319. Fulltekst i vitenarkiv
• Shakeshaft, Amy; Panjwani, Naim; McDowall, Robert; Crudgington, Holly; Ceballos, Javier Peña & Andrade, Danielle M. [Vis alle 26 forfattere av denne artikkelen] (2021). Trait impulsivity in Juvenile Myoclonic Epilepsy. Annals of clinical and translational neurology. 8(1), s. 138–152. doi: 10.1002/acn3.51255. Fulltekst i vitenarkiv Vis sammendrag

  Objective Impulsivity is a multidimensional construct that can predispose to psychopathology. Meta-analysis demonstrates an association between response impulsivity and Juvenile Myoclonic Epilepsy (JME), a common genetic generalized epilepsy. Here, we test the hypotheses that trait impulsivity is (i) elevated in JME compared to controls; (ii) moderated by specific seizure characteristics; and (iii) associated with psychiatric adverse effects of antiepileptic drugs (AEDs). Methods 322 participants with JME and 126 age and gender-matched controls completed the Barratt’s Impulsiveness Scale (BIS-brief) alongside information on seizure history and AED use. We compared group BIS-brief scores and assessed associations of JME BIS-brief scores with seizure characteristics and AED adverse effects. Results The mean BIS-brief score in JME was 18.1 ± 4.4 compared with 16.2 ± 4.1 in controls (P = 0.0007). Elevated impulsivity was associated with male gender (P = 0.027), frequent absence seizures (P = 0.0004) and lack of morning predominance of myoclonus (P = 0.008). High impulsivity significantly increased the odds of a psychiatric adverse event on levetiracetam (P = 0.036), but not any other psychiatric or somatic adverse effects. Interpretation Trait impulsivity is elevated in JME and comparable to scores in personality and neurotic disorders. Increased seizure frequency and absence of circadian seizure pattern moderate BIS score, suggesting disruption of both cortico-striatal and thalamocortical networks as a shared mechanism between seizures and impulsivity in JME. These findings warrant consideration of impulsivity as a distinct target of intervention, and as a stratifying factor for AED treatment in JME, and perhaps other types of epilepsy. The role of impulsivity in treatment adherence and psychosocial outcome requires further investigation.

• Hübschmann, Oya Kuseyri; Horvath, Gabriella; Cortès-Saladelafont, Elisenda; Yıldız, Yılmaz; Mastrangelo, Mario & Pons, Roser [Vis alle 51 forfattere av denne artikkelen] (2021). Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines. Nature Communications. 12(1), s. 1–15. doi: 10.1038/s41467-021-25515-5. Fulltekst i vitenarkiv
• Prestsæter, Sjur; Koht, Jeanette; Lamari, Foudil; Tallaksen, Chantal; Hoven, Stian Tobias Juel & Vigeland, Magnus Dehli [Vis alle 8 forfattere av denne artikkelen] (2020). Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5. Journal of the Neurological Sciences. ISSN 0022-510X. 419:117211, s. 1–4. doi: 10.1016/j.jns.2020.117211. Fulltekst i vitenarkiv Vis sammendrag

  Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-α-hydroxylase. The consequent accumulation of hydroxycholesterols in plasma seems to be pathognomonic for SPG5, and represent a possible target for treatment. We aimed to characterize Norwegian patients with SPG5, including clinical examinations, genetic analyses, measurements of hydroxycholesterols, electrophysiological investigations and brain imaging. Five unrelated patients carried presumed disease-causing variants in CYP7B1, three of the variants were novel. Four patients presented with pure HSP, one with complex HSP. The three tested patients all had markedly increased levels of 25- and 27-hydroxycholesterol in plasma. Our results suggest that the clinical examination is still the best approach to classify disease severity in patients with SPG5. Plasma hydroxycholesterols were elevated, thus presenting as potentially valuable diagnostic biomarkers, in particular in patients where genetic analyses are inconclusive. Keywords: CYP7B1; Hereditary spastic paraplegia; Hydroxycholesterols; Oxysterols; SPG5.

• Syvertsen, Marte Roa; Vasantharajan, Samitha; Moth, Thea Kristine Nohr; Enger, Ulla Helene & Koht, Jeanette (2020). Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy. Epilepsia Open. s. 1–5. doi: 10.1002/epi4.12434. Fulltekst i vitenarkiv Vis sammendrag

  Affective disorders are overrepresented in epilepsy, and people with epilepsy may be at risk of dropping out from school. The aim of the present study was to assess factors influencing high school dropout, anxiety, and depression in genetic generalized epilepsy (GGE). One hundred and ten people with GGE aged 19‐40 years underwent a clinical interview, including the Hospital Anxiety and Depression Scale (HADS) questionnaire. Potential predictors of high school dropout were analyzed with logistic regression, and factors influencing total HADS score were analyzed with linear regression. Having felt excluded because of epilepsy was significantly associated with high school dropout (odds ratio 7.80, P = .009), as was total HADS score (odds ratio 1.22, P = .005). If a participant was currently employed or undergoing education, previous high school dropout was less likely (odds ratio 0.07, P = .005). High school dropout was associated with increased current anxiety and depression (β = 0.32, P = .005). Epilepsy severity (current drug resistance, current polytherapy, and active generalized tonic‐clonic seizures) was not associated with high school dropout, nor with total HADS score. The issue of stigma in epilepsy must be thoroughly addressed in comprehensive care and may be as important as seizure control when it comes to education and quality of life.

• Syvertsen, Marte Roa; Koht, Jeanette; Selmer, Kaja; Enger, Ulla Helene; Pal, Deb K. & Smith, Anna (2020). Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy. Epilepsy & Behavior. ISSN 1525-5050. 112. doi: 10.1016/j.yebeh.2020.107260. Fulltekst i vitenarkiv Vis sammendrag

  Background Juvenile myoclonic epilepsy (JME) is a common subtype of genetic generalized epilepsy (GGE) arising in adolescence and is often associated with executive function (EF) deficits. Some EF components like response inhibition have been extensively evaluated in JME, but few studies have focused upon trait impulsivity or compared between GGE subtypes. The aim of the present study was to compare the association of trait impulsivity in JME with other GGE subtypes. Methods Patients with GGE aged between 14 and 40 years (n = 137) were divided into those with JME (n = 92) and those with other GGEs (n = 45: 8 childhood absence epilepsy (CAE), 22 juvenile absence epilepsy (JAE), and 15 epilepsy with generalized tonic–clonic seizures only (EGTCS)). The study participants were recruited through medical records of the general population of Buskerud County and the neighboring municipalities, covering 477,000 people or 9.1% of Norway's total population. All participants underwent a clinical interview including the Barratt Impulsiveness Scale (BIS), an established measure of trait impulsivity. We controlled for other potential predictors of BIS score using analysis of covariance (ANCOVA). Results There were no differences between JME and other types of GGE for BIS scores, but the presence of myoclonic seizures within the last year, irrespective of GGE subtype, was independently associated with significantly increased behavioral impulsivity. Conclusions This study demonstrates that trait impulsivity in GGE is most strongly related to the recent occurrence of myoclonic seizures rather than GGE subtype.

• Iqbal, Zafar; Koht, Jeanette; Pihlstrøm, Lasse; Henriksen, Sandra Pilar; Cappelletti, Chiara & Russell, Michael Bjørn [Vis alle 9 forfattere av denne artikkelen] (2019). Missense mutations in DYT-TOR1A dystonia. Neurology: Genetics. 5:e343(4), s. 1–6. doi: 10.1212/NXG.0000000000000343. Fulltekst i vitenarkiv Vis sammendrag

  DYT-TOR1A dystonia is caused by dominant mutations in the TOR1A gene, most frequently a heterozygous in-frame deletion in exon 5 (c.904_906delGAG; p.302/303delE).1 The most frequent phenotype has childhood onset in a limb, spreading to generalized dystonia within a few years. However, also mild focal forms and onset in the cervical and even cranial region have been described. Age at onset varies from 3 to 64 years,2 and penetrance is only 30%. Other in-frame deletions and point mutations in TOR1A have been associated with dystonia in a limited number of patients.3,4 Here, we report 2 new patients with missense mutations in TOR1A.

• Landmark, Cecilie Johannessen; Fløgstad, Ida; Syvertsen, Marte Roa; Baftiu, Arton; Enger, Ulla Helene & Koht, Jeanette [Vis alle 7 forfattere av denne artikkelen] (2019). Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy. Epilepsy & Behavior. ISSN 1525-5050. 98, s. 110–116. doi: 10.1016/j.yebeh.2019.05.021. Fulltekst i vitenarkiv Vis sammendrag

  Background: Patients with juvenile myoclonic epilepsy (JME) may have uncontrolled seizures. The purpose of this study was to investigate the use and challenges with antiepileptic drugs (AEDs) and the patients' view of these challenges. Method: A questionnaire about the use of AEDs, adherence to therapy, and quality of life was given to patients with JME recruited from Drammen Hospital. Data regarding AEDs were confirmed from medical records at Drammen Hospital, Norway (2007–2018). Additional clinical interviews were performed, and a mixed method approach was applied. Results: Ninety patients with defined JME diagnosis, 54/36 women/men aged 14–39 (mean: 25) years, were included. Only 29 (33%) were seizure-free.Within the last year, 21% experienced generalized tonic–clonic seizures (GTCS), and 68% hadmyoclonic jerks. Seventy-six (84%) used AEDs, 78% inmonotherapy. A total of 10 AEDswere used;: most commonly valproate (n = 33), lamotrigine (n = 27), and levetiracetam (n = 21). Two-thirds of valproate users were men while all other AEDs were used more in females than in men. Valproate and levetiracetam displayed better efficacy against GTCS than lamotrigine. One-third often/sometimes forgot their medication nonintentionally while 14% had intentional poor adherence. The majority reported good quality of life (76%). No significant correlations between the use of AEDs, use of valproate, poor adherence, quality of life score, and seizure freedom were demonstrated. Half of the patients had serum concentrations measured every year, and two thirds thought this was important. Qualitative interviews elucidated treatment challenges in JME;, adverse effect burden, adherence, and activities of daily life. Conclusion: Despite the use of AEDs in the majority of patients, only one-thirdwere seizure-free. Other challenges included polypharmacy, the use of valproate in women, and variable adherence. This points to a need for closer follow-up in patients with JME.

• Syvertsen, Marte Roa; Selmer, Kaja Kristine; Enger, Ulla Helene; Nakken, Karl Otto; Pal, Deb K. & Smith, Anna [Vis alle 7 forfattere av denne artikkelen] (2019). Psychosocial complications in juvenile myoclonic epilepsy. Epilepsy & Behavior. ISSN 1525-5050. 90, s. 122–128. doi: 10.1016/j.yebeh.2018.11.022. Fulltekst i vitenarkiv Vis sammendrag

  Juvenile myoclonic epilepsy (JME) constitutes about 10% of all epilepsies. Because of executive dysfunction, people with JME may be prone to impulsivity and risk-taking behavior. Our aimwas to investigate whether psychosocial issues associatedwith impulsivity aremore prominent in peoplewith JMEthan in thosewith other types of genetic generalized epilepsy (GGE). Patients with GGE were recruited retrospectively through the Drammen Hospital records in Buskerud County, Norway, 1999–2013. Theywere invited to a semi-structured interview, either at the hospital or at home. Ninety-two patients with JME and 45 with other types of GGE were interviewed. Variables were evaluated in terms of their association with JME versus other GGE diagnosis using a logistic regression model. Juvenile myoclonic epilepsy was associated with use of illicit recreational drugs and police charges, although with borderline significance (odds ratio [OR] 3.4, p=0.087 and OR 4.2, p=0.095); JME was also associated with being examined for attention-deficit hyperactivity disorder (ADHD) in females (OR 15.5, p=0.015), a biological parent with challenges like addiction or violent behavior (OR 3.5, p=0.032), and use of levetiracetam (OR 5.1, p=0.014). After controlling for group differences, we found psychosocial complications to be associated with JME, potentially influencing the lives of the individuals and their families to a greater extent than the seizures per se. Thus, JME should be considered a disorder of the brain in a broader sense than a condition with seizures only.

• Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence & Koht, Jeanette (2019). Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. 6:2, s. 1–5. doi: 10.1186/s40673-019-0096-3. Fulltekst i vitenarkiv Vis sammendrag

  Background: CAPOS (Cerebellar ataxia, Areflexia, Pes cavus, Optic atrophy and Sensorineural hearing loss) syndrome is caused by the heterozygous mutation, c.2452G > A, in the ATP1A3 gene. Other mutations in this gene can cause a spectrum of overlapping phenotypes including alternating hemiplegia of childhood, rapid onset dystonia parkinsonism, early infantile epileptic encephalopathy and fever induced paroxysmal weakness and encephalopathy. The phenotype is still mistaken for mitochondrial/metabolic disorders and follow up studies are scare. Case presentation: We report a 20 year old Norwegian male with ataxia, sensorineural deafness and visual loss. Before the age of five he experienced three fever related episodes of acute neurological deterioration when he temporarily lost his acquired motor skills and developed persistent gait and limb ataxia. In childhood, he developed bilateral optic atrophy and bilateral sensorineural hearing loss. Motor skills improved and at age 20 the patient showed a mild ataxia, hearing loss and reduced vision. A c.2452G > A mutation in the ATP1A3 gene was identified and CAPOS syndrome was confirmed. Conclusions: This is the first Norwegian patient reported with CAPOS syndrome. Our patient had a de novo, previously identified ATP1A3 mutation. The combination of recurrent episodes of fever related ataxia, loss of motor skills in early childhood, and early onset hearing and vision loss is typical of CAPOS syndrome. Previous reports suggest a gradual progression of the disease after the initial episodes, while this patient showed a good outcome with improvement of motor skills from adolescence long after the last deterioration episode.

• Landmark, Cecilie Johannessen; Fløgstad, Ida; Baftiu, Arton; Syvertsen, Marte Roa; Enger, Ulla Helene & Koht, Jeanette [Vis alle 7 forfattere av denne artikkelen] (2019). Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy. Epilepsy Research. ISSN 0920-1211. 155, s. 1–8. doi: 10.1016/j.eplepsyres.2019.05.016. Fulltekst i vitenarkiv Vis sammendrag

  Background and purpose: Patients with juvenile myoclonus epilepsy (JME) may experience uncontrolled seizures and challenges regarding adherence. Implementation of therapeutic drug monitoring (TDM) may contribute to individualization of the therapy with antiepileptic drugs (AEDs). The purpose of this study was to investigate how the treatment of patientswith JMEis monitored and todemonstrate pharmacokinetic variability withinand between patients with a long-term TDM approach. Method: Retrospective data from patients with JME from the TDM-database at Drammen Hospital and the National Center for Epilepsy in Norway (2007–2018) were included. Results: Data from 80 of 90 patients with JME using AEDs with TDM measurements was included (88%, 49/31 women/men aged 14–39). One third (27, 33%) was seizure free, 19 (24%) had generalized tonic-clonic seizures, and 53 (66%) myoclonic seizures during the last year. The most common AEDs measured included lamotrigine, valproate, and levetiracetam. Long-term TDM demonstrated variability over time expressed as intra-patient median values and inter-patient ranges of 19% (7–47) for valproate, 43% (10–83) for lamotrigine and 35% (6–111) forlevetiracetam. Fifteenpecent (83/563) ofserum concentrations were below the referencerangesand clould be due to variable adherence. Comedication with valproate for lamotrigine and pregnancy contributed to variability. The applicability is illustrated in a case of 10 years’ follow-up in a young woman. Conclusion: There was extensive pharmacokinetic variability of AEDs in and between patients with JME. A longterm TDM approach may contribute to closer monitoring of patients with JME and be used as a practical tool during clinical consultations.

• Dahl-Hansen, Eline; Koht, Jeanette & Syvertsen, Marte Roa (2019). Epilepsy at different ages-Etiologies in a Norwegian population. Epilepsia Open. 4(1), s. 176–181. doi: 10.1002/epi4.12292. Fulltekst i vitenarkiv Vis sammendrag

  The causes of epilepsy are age related, but confirmative data from population‐based studies are scarce. Our aim was to describe the typical causes of epilepsy in the different age groups of a defined population. The study was cross‐sectional, based on a review of all medical files containing a diagnostic code for epilepsy at Drammen Hospital from 1999‐2013. Drammen Hospital serves the population of Buskerud County, with 272 228 residents (as of January 1, 2014), including 1771 people with active epilepsy. This group of persons with active epilepsy was divided into different age groups with the causes of epilepsy mapped in each group. The proportion with unknown etiology ranged from 27% (age 5‐9) to 41% (age 10‐19). Structural‐metabolic epilepsy and perinatal insults were the leading causes of epilepsy in the age group 5‐9 (46%), whereas disturbances of brain development dominated in the youngest (23% in patients ≤4 years old). In the group comprising persons with epilepsy ≥60 years old, stroke was the most common cause of epilepsy (44%). Despite recent advances in research and technology, a large number of patients in all age groups (including the youngest) still have an unknown cause of epilepsy. We conclude that an effort must be made to improve the diagnostics for and understanding of the causes of epilepsy across all ages.

• Rydning, Siri Lynne; Koht, Jeanette; Sheng, Ying; Sowa, Piotr; Hjorthaug, Hanne Sagsveen & Wedding, Iselin Marie [Vis alle 12 forfattere av denne artikkelen] (2019). Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain. ISSN 0006-8950. 142:e12(4), s. 1–5. doi: 10.1093/brain/awz041. Fulltekst i vitenarkiv
• Syvertsen, Marte Roa; Fløgstad, Ida; Enger, Ulla Helene; Landmark, Cecilie Johannessen & Koht, Jeanette (2019). Antiepileptic drug withdrawal in juvenile myoclonic epilepsy. Acta Neurologica Scandinavica. ISSN 0001-6314. 139(2), s. 192–198. doi: 10.1111/ane.13042. Fulltekst i vitenarkiv
• Sjaastad, Ottar; Blau, Nenad; Rydning, Siri Lynne; Peters, Verena; Rødningen, Olaug Kristin & Stray-Pedersen, Asbjørg [Vis alle 9 forfattere av denne artikkelen] (2018). Homocarnosinosis: A historical update and findings in the SPG11 gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 138(3), s. 245–250. doi: 10.1111/ane.12949. Fulltekst i vitenarkiv
• Giltvedt, Kaja; Fossmo, Hanne Ludt & Koht, Jeanette (2018). Fysioterapi ved arvelig ataksi. Fysioterapeuten. ISSN 0016-3384. 85(6), s. 22–27. Fulltekst i vitenarkiv
• Randby, Hans; Salvador, Cathrin Lytomt; Oppebøen, Mari; Skogseid, Inger Marie & Koht, Jeanette (2018). Doparesponsive dystonier. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 138(19), s. 1842–1847. doi: 10.4045/tidsskr.17.0595. Fulltekst i vitenarkiv
• Hoem, Gry & Koht, Jeanette (2017). Fragilt X-assosiert tremor-ataksi-syndrom. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 137(20). doi: 10.4045/tidsskr.17.0317. Fulltekst i vitenarkiv
• Syvertsen, Marte Roa; Hellum, Morten Kristoffer; Hansen, Gunnar; Edland, Astrid; Nakken, Karl Otto & Selmer, Kaja Kristine [Vis alle 7 forfattere av denne artikkelen] (2017). Prevalence of juvenile myoclonic epilepsy in people <30 years of age—A population-based study in Norway. Epilepsia. ISSN 0013-9580. 58(1), s. 105–112. doi: 10.1111/epi.13613. Fulltekst i vitenarkiv
• Koht, Jeanette; Hansen, Anniken; Blom, Johanna & Elvik, Anette Holmelid (2017). Dystoni: klassifikasjon, årsak og behandling. Fysioterapeuten. ISSN 0016-3384. 84(1), s. 24–28. Fulltekst i vitenarkiv
• Ødemark, Elin & Koht, Jeanette (2017). Mannen som falt om i åkeren. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 137(12). doi: 10.4045/tidsskr.16.1011. Fulltekst i vitenarkiv
• Iqbal, Zafar; Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Pihlstrøm, Lasse & Rengmark, Aina Sylvia Haugen [Vis alle 9 forfattere av denne artikkelen] (2017). Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia. PLOS ONE. 12:e0174667(3), s. 1–19. doi: 10.1371/journal.pone.0174667. Fulltekst i vitenarkiv Vis sammendrag

  Hereditary ataxia and spastic paraplegia are heterogeneous monogenic neurodegenerative disorders. To date, a large number of individuals with such disorders remain undiagnosed. Here, we have assessed molecular diagnosis by gene panel sequencing in 105 early and late-onset hereditary ataxia and spastic paraplegia probands, in whom extensive previous investigations had failed to identify the genetic cause of disease. Pathogenic and likely-pathogenic variants were identified in 20 probands (19%) and variants of uncertain significance in ten probands (10%). Together these accounted for 30 probands (29%) and involved 18 different genes. Among several interesting findings, dominantly inherited KIF1A variants, p.(Val8Met) and p.(Ile27Thr) segregated in two independent families, both presenting with a pure spastic paraplegia phenotype. Two homozygous missense variants, p.(Gly4230Ser) and p.(Leu4221Val) were found in SACS in one consanguineous family, presenting with spastic ataxia and isolated cerebellar atrophy. The average disease duration in probands with pathogenic and likely-pathogenic variants was 31 years, ranging from 4 to 51 years. In conclusion, this study confirmed and expanded the clinical phenotypes associated with known disease genes. The results demonstrate that gene panel sequencing and similar sequencing approaches can serve as efficient diagnostic tools for different heterogeneous disorders. Early use of such strategies may help to reduce both costs and time of the diagnostic process.

• Koht, Jeanette; Løstegaard, Sven Olav; Wedding, Iselin Marie; Vidailhet, Marie; Louha, Malek & Tallaksen, Chantal (2016). Benign hereditary chorea, not only chorea: a family case presentation. Cerebellum & ataxias. 3. doi: 10.1186/s40673-016-0041-7. Fulltekst i vitenarkiv Vis sammendrag

  Background Benign hereditary chorea is a rare disorder which is characterized by early onset, non-progressive choreic movement disturbance, with other hyperkinetic movements and unsteadiness also commonly seen. Hypothyroidism and lung disease are frequent additional features. The disorder is caused by mutations of the NKX2-1 gene on chromosome 14. Case presentation A Norwegian four-generation family with eight affected was identified. All family members had an early onset movement disorder, starting before one year of age with motor delay and chorea. Learning difficulties were commonly reported from early school years. The family presented with choreic movements at rest, but other movements were seen; myoclonus, dystonia, ataxia, stuttering and tics-like movements. All patients reported unsteadiness and ataxic gait was observed in two patients. Videos are provided in the supplementary material. Most affected family members had asthma and a subclinical or clinical hypothyroidism. Sequencing revealed a mutation in the NKX2-1 gene in all eight affected family members. Conclusions This is the first Norwegian family with benign hereditary chorea due to a mutation in the NKX2-1 gene, c.671 T > G (p.Leu224Arg). This family demonstrates well the wide phenotype, including dystonia, myoclonus and ataxia.

• Rydning, Siri Lynne; Wedding, Iselin Marie; Koht, Jeanette; Chawla, Maninder Singh; Øye, Ane-Marte & Sheng, Ying [Vis alle 9 forfattere av denne artikkelen] (2016). A founder mutation p.H701P identified as a major cause of SPG7 in Norway. European Journal of Neurology. ISSN 1351-5101. 23(4), s. 763–771. doi: 10.1111/ene.12937. Fulltekst i vitenarkiv Vis sammendrag

  Background and purpose: SPG7 is one of the most common forms of autosomal recessive hereditary spastic paraplegia. The phenotype has been shown to be heterogeneous, varying from a complex spastic ataxia to pure spastic paraplegia or pure ataxia. The aim of this study was to clinically and genetically characterize patients with SPG7 in Norway. Methods: Six Norwegian families with a clinical diagnosis of hereditary spastic paraplegia were diagnosed with SPG7 through Sanger sequencing and whole-exome sequencing. Haplotypes were established to identify a possible founder mutation. All patients were thoroughly examined and the clinical and molecular findings are described. Results: The core phenotype was spastic paraparesis with ataxia, bladder disturbances and progressive external ophthalmoplegia. The variant p.H701P was identified in homozygous state in one family and in compound heterozygous state in three families. Haplotype analysis of seven surrounding single nucleotide polymorphisms supports that this variant resides on a founder haplotype. Four of the families were compound heterozygous for the previously well-described p.A510V variant. Conclusion: SPG7 is a common subgroup of hereditary spinocerebellar disorders in Norway. The broad phenotype in the Norwegian SPG7 population illustrates the challenges with the traditional dichotomous classification of hereditary spinocerebellar disorders into hereditary spastic paraplegia or hereditary ataxia. A Norwegian founder mutation p.H701P was identified in four out of six families, making it a major cause of SPG7 in Norway.

• Tesson, Christelle; Koht, Jeanette & Stevanin, Giovanni (2015). Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Human Genetics. ISSN 0340-6717. 134, s. 511–538. doi: 10.1007/s00439-015-1536-7. Fulltekst i vitenarkiv
• Syvertsen, Marte; Koht, Jeanette & Nakken, Karl Otto (2015). Forekomst av epilepsi i de nordiske landene :. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 135(18), s. 1641–1645. doi: 10.4045/tidsskr.15.0454. Fulltekst i vitenarkiv
• Syvertsen, Marte; Nakken, Karl Otto; Edland, Astrid; Hansen, Gunnar; Hellum, Morten Kristoffer & Koht, Jeanette (2015). Prevalence and etiology of epilepsy in a Norwegian county - A population based study. Epilepsia. ISSN 0013-9580. 56(5), s. 699–706. doi: 10.1111/epi.12972. Fulltekst i vitenarkiv
• Wedding, Iselin Marie; Koht, Jeanette; Tran, Gia Tuong Thi; Misceo, Doriana; Selmer, Kaja Kristine & Holmgren, Asbjørn [Vis alle 10 forfattere av denne artikkelen] (2014). Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions. PLOS ONE. 9(1). doi: 10.1371/journal.pone.0086340. Fulltekst i vitenarkiv Vis sammendrag

  Spastic paraplegia 7 is an autosomal recessive disorder caused by mutations in the gene encoding paraplegin, a protein located at the inner mitochondrial membrane and involved in the processing of other mitochondrial proteins. The mechanism whereby paraplegin mutations cause disease is unknown. We studied two female and two male adult patients from two Norwegian families with a combination of progressive external ophthalmoplegia and spastic paraplegia. Sequencing of SPG7 revealed a novel missense mutation, c.2102A>C, p.H 701P, which was homozygous in one family and compound heterozygous in trans with a known pathogenic mutation c.1454_1462del in the other. Muscle was examined from an additional, unrelated adult female patient with a similar phenotype caused by a homozygous c.1047insC mutation in SPG7. Immunohistochemical studies in skeletal muscle showed mosaic deficiency predominantly affecting respiratory complex I, but also complexes III and IV. Molecular studies in single, microdissected fibres showed multiple mitochondrial DNA deletions segregating at high levels (38–97%) in respiratory deficient fibres. Our findings demonstrate for the first time that paraplegin mutations cause accumulation of mitochondrial DNA damage and multiple respiratory chain deficiencies. While paraplegin is not known to be directly associated with the mitochondrial nucleoid, it is known to process other mitochondrial proteins and it is possible therefore that paraplegin mutations lead to mitochondrial DNA deletions by impairing proteins involved in the homeostasis of the mitochondrial genome. These studies increase our understanding of the molecular pathogenesis of SPG7 mutations and suggest that SPG7 testing should be included in the diagnostic workup of autosomal recessive, progressive external ophthalmoplegia, especially if spasticity is present.

• Koht, Jeanette; Rengmark, Aina Sylvia Haugen; Opladen, Thomas; Bjørnarå, Kari Anne; Selberg, Tore & Tallaksen, Chantal [Vis alle 8 forfattere av denne artikkelen] (2014). Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 129(198), s. 7–12. doi: 10.1111/ane.12230. Fulltekst i vitenarkiv
• Heimdal, Ketil Riddervold; Guixe, Monica Sanchez; Aukrust, Ingvild; Bollerslev, Jens; Bruland, Ove & Jablonski, Greg [Vis alle 17 forfattere av denne artikkelen] (2014). STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity. Orphanet Journal of Rare Diseases. 9:146. doi: 10.1186/s13023-014-0146-0. Fulltekst i vitenarkiv Vis sammendrag

  Background: A subset of hereditary cerebellar ataxias is inherited as autosomal recessive traits (ARCAs). Classification of recessive ataxias due to phenotypic differences in the cerebellum and cerebellar structures is constantly evolving due to new identified disease genes. Recently, reports have linked mutations in genes involved in ubiquitination (RNF216, OTUD4, STUB1) to ARCA with hypogonadism. Methods and results: With a combination of homozygozity mapping and exome sequencing, we identified three mutations in STUB1 in two families with ARCA and cognitive impairment; a homozygous missense variant (c.194A > G, p.Asn65Ser) that segregated in three affected siblings, and a missense change (c.82G > A, p.Glu28Lys) which was inherited in trans with a nonsense mutation (c.430A > T, p.Lys144Ter) in another patient. STUB1 encodes CHIP (C-terminus of Heat shock protein 70 – Interacting Protein), a dual function protein with a role in ubiquitination as a co-chaperone with heat shock proteins, and as an E3 ligase. We show that the p.Asn65Ser substitution impairs CHIP’s ability to ubiquitinate HSC70 in vitro, despite being able to self-ubiquitinate. These results are consistent with previous studies highlighting this as a critical residue for the interaction between CHIP and its co-chaperones. Furthermore, we show that the levels of CHIP are strongly reduced in vivo in patients’ fibroblasts compared to controls. Conclusions: These results suggest that STUB1 mutations might cause disease by impacting not only the E3 ligase function, but also its protein interaction properties and protein amount. Whether the clinical heterogeneity seen in STUB1 ARCA can be related to the location of the mutations remains to be understood, but interestingly, all siblings with the p.Asn65Ser substitution showed a marked appearance of accelerated aging not previously described in STUB1 related ARCA, none display hormonal aberrations/clinical hypogonadism while some affected family members had diabetes, alopecia, uveitis and ulcerative colitis, further refining the spectrum of STUB1 related disease.

• Wedding, Iselin Marie; Koht, Jeanette; Dietrichs, Espen; Landrø, Nils Inge & Tallaksen, Chantal (2013). Cognition is only minimally impaired in Spinocerebellar ataxia type 14 (SCA14): a neuropsychological study of ten Norwegian subjects compared to intrafamilial controls and population norm. BMC Neurology. 13:186. doi: 10.1186/1471-2377-13-186. Fulltekst i vitenarkiv Vis sammendrag

  Background: There is an increasing awareness of the role of the cerebellum not only in motor, but also in cognitive and emotional functions. Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant hereditary ataxia characterized by a relatively pure cerebellar phenotype. Cognitive impairment has been reported in studies with phenotype descriptions of SCA14, but previous studies have been small without control groups, and no homogeneous and systematic test panel has been used. The objective of this study was to thoroughly characterize the neuropsychological profile in ten Norwegian SCA14 subjects compared to unaffected family members and population norm data. Methods: Ten SCA14 subjects and ten intrafamilial unaffected age- and education-matched controls from two Norwegian families were included. The unaffected intrafamilial controls included six first degree relatives, two second degree relatives, and two spouses. General intellectual ability, memory, visuoperceptive skills, psychomotor speed, executive functions, depression and anxiety were examined using internationally standardized tests, with minimal need for manual response to avoid motor bias. Results: No significant cognitive deficit was found in SCA14 subjects compared to intrafamilial controls. Verbal IQ, verbal executive function and psychomotor speed tended to be reduced in affected subjects, but previously reported non-verbal executive dysfunction was not confirmed in this study. Conclusion: Only subtle cognitive impairment was found in SCA14 affected subjects. The current findings do not confirm earlier reports of cognitive dysfunction in SCA14, but does shows a mild impairment in specific verbal executive functions. Genotypic differences may partly account for this discrepancy, and further studies on larger materials are needed to verify the findings.

• Gras, Domtille; Jonard, Laurence; Roze, Emmanuel; Chantot-Bastaraud, Sandra; Koht, Jeanette & Motte, Jacques [Vis alle 27 forfattere av denne artikkelen] (2012). Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. Journal of Neurology, Neurosurgery and Psychiatry. ISSN 0022-3050. 83(10), s. 956–962. doi: 10.1136/jnnp-2012-302505. Fulltekst i vitenarkiv
• Koht, Jeanette; Stevanin, G; Durr, A; Mundwiller, E; Brice, A & Tallaksen, Chantal (2012). SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. Acta Neurologica Scandinavica. ISSN 0001-6314. 125(2), s. 116–122. doi: 10.1111/j.1600-0404.2011.01504.x. Fulltekst i vitenarkiv
• Koht, Jeanette; Tallaksen, Chantal & ERICHSEN, ANNE KJERSTI (2010). Kapitell om ataksier og spastiske parapareser. I Gjerstad, Leif; Helseth, Eirik & Rootwelt, Terje (Red.), Nevrologi og nevrokirurgi. Fra barn til voksen. 5.utgave. Forlaget Vett & Viten AS. ISSN 9788241206863. Fulltekst i vitenarkiv
• Anheim, M; Monga, B; Fleury, M; Charles, P; Barbot, C & Salih, M [Vis alle 35 forfattere av denne artikkelen] (2009). Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain. ISSN 0006-8950. 132, s. 2688–2698. doi: 10.1093/brain/awp211. Fulltekst i vitenarkiv
• ERICHSEN, ANNE KJERSTI; Koht, Jeanette; Stray-Pedersen, Asbjørg; Abdelnoor, Michael & Tallaksen, Chantal (2009). Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain. ISSN 0006-8950. 132, s. 1577–1588. doi: 10.1093/brain/awp056. Fulltekst i vitenarkiv
• Koht, Jeanette Aimee; Bjornara, KA; Jørum, Ellen & Tallaksen, Chantal (2009). Ataxia with vitamin E deficiency in southeast Norway, case report. Acta Neurologica Scandinavica. ISSN 0001-6314. 120, s. 42–45. Fulltekst i vitenarkiv
• Koht, Jeanette Aimee & Tallaksen, Chantal (2007). Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurologica Scandinavica. ISSN 0001-6314. 115. Fulltekst i vitenarkiv

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• Koht, Jeanette & Winsvold, Bendik Kristoffer Slagsvold (2024). Primære vs sekundære hodepiner. [Internet]. Nevropodden. Fulltekst i vitenarkiv Vis sammendrag

  I dag sitter hodepineforsker og nevrolog Bendik Winsvold i studio med Anna Bjerkreim og Jeanette Koht. Vi snakker om hvordan vi skal kjenne igjen de tre vanlige primære hodepineformene: migrene, spenningshodepine og TAC (trigeminal autonom cephalalgia) og også om hva sekundær hodepine er og hva som er risikofaktorer for sekundær hodepine.

• Døving, Mats; Stray, August; Anandan, Steven; Eide, Per Kristian; Skogen, Karoline & Koht, Jeanette (2024). En kvinne i 40-årene med smerter i øret. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 144(1), s. 1–8. doi: 10.4045/tidsskr.23.0543. Fulltekst i vitenarkiv
• Winsvold, Bendik Kristoffer Slagsvold; Koht, Jeanette & Bjerkereim, Anna (2024). Primære hodepiner - de hyppigste. [Internet]. Nevropodden. Fulltekst i vitenarkiv Vis sammendrag

  Denne episoden handler om de trehyppigste primære hodepinetypene: migrene, tensjonshodepine og TAC (trigeminal autonom cephalalgia). Hodepineforsker og nevrolog Bendik Winsvold forklarer hvordan vi kan skille de vanligste hodepineformene. I studio sitter Anna Bjerkreim og Jeanette Koht.

• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitorering av pasienter med juvenil myoklonus epilepsi. Fulltekst i vitenarkiv
• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitoring of pharmacological treatment of patients with juvenile myoclonus epilepsy. Fulltekst i vitenarkiv
• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Oppfølging av pasienter med JME. Fulltekst i vitenarkiv
• ida, fløgstad; Syvertsen, Marte Roa; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitoring of pharmacological treatment of patients with juvenile myoclonus epilepsy. Fulltekst i vitenarkiv
• Solberg, Marianne & Koht, Jeanette (2017). Oculogyric crises. Tremor and Other Hyperkinetic Movements. 7, s. 1–2. doi: 10.7916/D85X2N2D. Fulltekst i vitenarkiv
• Gerstner, Thorsten; Moland, Siri & Koht, Jeanette (2015). Congenital mirror movements of the hands. Tidsskrift for Den norske legeforening (Tidsskriftet). ISSN 0029-2001. 135(20), s. 1852–1852. doi: 10.4045/tidsskr.15.0733. Fulltekst i vitenarkiv
• Wedding, Iselin Marie; Koht, Jeanette; Landro, N. I. & Tallaksen, Chantal (2012). Cerebellum - more than motor control? Cognition in spinocerebellar ataxia type 14. European Journal of Neurology. ISSN 1351-5101. 19, s. 62–62. Fulltekst i vitenarkiv
• Koht, Jeanette & Tallaksen, Chantal (2010). Two new autosomal dominant ataxia loci. Fulltekst i vitenarkiv
• Koht, Jeanette (2009). Two Norwegian families with SCA14. Fulltekst i vitenarkiv
• ERICHSEN, ANNE KJERSTI; Koht, Jeanette Aimee; Abdelnoor, M & Tallaksen, Chantal (2008). Hereditary spastic paraplegia in south-eastern Norway. European Journal of Neurology. ISSN 1351-5101. 15, s. 354–354. Fulltekst i vitenarkiv

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