Publications 2024

Døving M, Stray A, Anandan S, Eide PK, Skogen K, Koht J (2024)
A woman in her forties with ear pain
Tidsskr Nor Laegeforen, 144 (1)
DOI 10.4045/tidsskr.23.0543, PubMed 38258718

Hagberg G, Skytøen ER, Nakstad I, O' Sullivan K, Koht J, Johansen TKB, Feruglio SL, Frøyshov S (2024)
Iatrogenic botulism
Tidsskr Nor Laegeforen, 144 (2)
DOI 10.4045/tidsskr.23.0625, PubMed 38349108

Publications 2022

Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Møller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP et al. (2022)
Sex-specific disease modifiers in juvenile myoclonic epilepsy
Sci Rep, 12 (1), 2785
DOI 10.1038/s41598-022-06324-2, PubMed 35190554

Stenshorne I, Syvertsen M, Ramm-Pettersen A, Henning S, Weatherup E, Bjørnstad A, Brüggemann N, Spetalen T, Selmer KK, Koht J (2022)
Monogenic developmental and epileptic encephalopathies of infancy and childhood, a population cohort from Norway
Front Pediatr, 10, 965282
DOI 10.3389/fped.2022.965282, PubMed 35979408

Publications 2020

Prestsæter S, Koht J, Lamari F, Tallaksen CME, Hoven STJ, Vigeland MD, Selmer KK, Rydning SL (2020)
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5
J Neurol Sci, 419, 117211
DOI 10.1016/j.jns.2020.117211, PubMed 33160247

Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ et al. (2020)
Trait impulsivity in Juvenile Myoclonic Epilepsy
Ann Clin Transl Neurol, 8 (1), 138-152
DOI 10.1002/acn3.51255, PubMed 33264519

Syvertsen M, Koht J, Selmer K, Enger U, Pal DK, Smith A (2020)
Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy
Epilepsy Behav, 112, 107260
DOI 10.1016/j.yebeh.2020.107260, PubMed 32745958

Syvertsen M, Vasantharajan S, Moth T, Enger U, Koht J (2020)
Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy
Epilepsia Open, 5 (4), 611-615
DOI 10.1002/epi4.12434, PubMed 33336132

Publications 2019

Iqbal Z, Koht J, Pihlstrøm L, Henriksen SP, Cappelletti C, Russel MB, Norberto de Souza O, Skogseid IM, Toft M (2019)
Missense mutations in DYT-TOR1A dystonia
Neurol Genet, 5 (4), e343
DOI 10.1212/NXG.0000000000000343, PubMed 31321303

Johannessen Landmark C, Fløgstad I, Baftiu A, Syvertsen M, Enger U, Koht J, Johannessen SI (2019)
Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy
Epilepsy Res, 155, 106148
DOI 10.1016/j.eplepsyres.2019.05.016, PubMed 31195184

Johannessen Landmark C, Fløgstad I, Syvertsen M, Baftiu A, Enger U, Koht J, Johannessen SI (2019)
Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy
Epilepsy Behav, 98 (Pt A), 110-116
DOI 10.1016/j.yebeh.2019.05.021, PubMed 31330379

Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019)
Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis
Brain, 142 (4), e12
DOI 10.1093/brain/awz041, PubMed 30847471

Stenshorne I, Rasmussen M, Salvanos P, Tallaksen CME, Bindoff LA, Koht J (2019)
Fever-related ataxia: a case report of CAPOS syndrome
Cerebellum Ataxias, 6, 2
DOI 10.1186/s40673-019-0096-3, PubMed 31410291

Syvertsen M, Selmer K, Enger U, Nakken KO, Pal DK, Smith A, Koht J (2019)
Psychosocial complications in juvenile myoclonic epilepsy
Epilepsy Behav, 90, 122-128
DOI 10.1016/j.yebeh.2018.11.022, PubMed 30530133

Publications 2018

Dahl-Hansen E, Koht J, Syvertsen M (2018)
Epilepsy at different ages-Etiologies in a Norwegian population
Epilepsia Open, 4 (1), 176-181
DOI 10.1002/epi4.12292, PubMed 30868128

Randby H, Salvador CL, Oppeboen M, Skogseid IM, Koht J (2018)
Dopa responsive dystonia
Tidsskr. Nor. Laegeforen., 138 (19), 1842-1847

Randby H, Salvador CL, Oppebøen M, Skogseid IM, Koht J (2018)
Dopa-responsive dystonia
Tidsskr Nor Laegeforen, 138 (19)
DOI 10.4045/tidsskr.17.0595, PubMed 30497245

Sjaastad O, Blau N, Rydning SL, Peters V, Rødningen O, Stray-Pedersen A, Krossnes B, Tallaksen C, Koht J (2018)
Homocarnosinosis: A historical update and findings in the SPG11 gene
Acta Neurol Scand, 138 (3), 245-250
DOI 10.1111/ane.12949, PubMed 29732542

Syvertsen M, Fløgstad I, Enger U, Landmark CJ, Koht J (2018)
Antiepileptic drug withdrawal in juvenile myoclonic epilepsy
Acta Neurol Scand, 139 (2), 192-198
DOI 10.1111/ane.13042, PubMed 30378684

Publications 2017

Hoem G, Koht J (2017)
Fragile X-associated tremor/ataxia syndrome
Tidsskr Nor Laegeforen, 137 (20)
DOI 10.4045/tidsskr.17.0317, PubMed 29094559

Hoem G, Koht J (2017)
Fragile X-associated tremor/ataxia syndrome
Tidsskr. Nor. Laegeforen., 137 (20), 1607-1610

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CM, Toft M (2017)
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (3), e0174667
DOI 10.1371/journal.pone.0174667, PubMed 28362824

Iqbal Z, Rydning SL, Wedding IM, Koht J, Pihlstrøm L, Rengmark AH, Henriksen SP, Tallaksen CME, Toft M (2017)
Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
PLoS One, 12 (10), e0186571
DOI 10.1371/journal.pone.0186571, PubMed 29023604

Solberg M, Koht J (2017)
Oculogyric Crises
Tremor Other Hyperkinet Mov (N Y), 7, 491
DOI 10.7916/D85X2N2D, PubMed 28975049

Ødemark E, Koht J (2017)
The man who collapsed in the field
Tidsskr Nor Laegeforen, 137 (12-13), 890-894
DOI 10.4045/tidsskr.16.1011, PubMed 28655247

Publications 2016

Koht J (2016)
Clinical neurology and neurosurgery
Tidsskr. Nor. Laegeforen., 136 (3), 246
DOI 10.4045/tidsskr.15.1201

Koht J, Løstegaard SO, Wedding I, Vidailhet M, Louha M, Tallaksen CM (2016)
Benign hereditary chorea, not only chorea: a family case presentation
Cerebellum Ataxias, 3, 3
DOI 10.1186/s40673-016-0041-7, PubMed 26839702

Rydning SL, Wedding IM, Koht J, Chawla M, Øye AM, Sheng Y, Vigeland MD, Selmer KK, Tallaksen CM (2016)
A founder mutation p.H701P identified as a major cause of SPG7 in Norway
Eur J Neurol, 23 (4), 763-71
DOI 10.1111/ene.12937, PubMed 26756429

Solberg M, Koht J (2016)
Dystonia induced by drug treatment
Tidsskr Nor Laegeforen, 136 (20), 1730
DOI 10.4045/tidsskr.16.0366, PubMed 27830908

Syvertsen M, Hellum MK, Hansen G, Edland A, Nakken KO, Selmer KK, Koht J (2016)
Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway
Epilepsia, 58 (1), 105-112
DOI 10.1111/epi.13613, PubMed 27861775

Trouillard O, Koht J, Gerstner T, Moland S, Depienne C, Dusart I, Méneret A, Ruiz M, Dubacq C, Roze E (2016)
Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature
Tremor Other Hyperkinet Mov (N Y), 6, 424
DOI 10.7916/D8BK1CNF, PubMed 27830107

Publications 2015

Gerstner T, Moland S, Koht J (2015)
Congenital mirror movements of the hands
Tidsskr Nor Laegeforen, 135 (20), 1852
DOI 10.4045/tidsskr.15.0733, PubMed 26534812

Syvertsen M, Koht J, Nakken KO (2015)
Prevalence and incidence of epilepsy in the Nordic countries
Tidsskr Nor Laegeforen, 135 (18), 1641-5
DOI 10.4045/tidsskr.15.0454, PubMed 26442732

Syvertsen M, Nakken KO, Edland A, Hansen G, Hellum MK, Koht J (2015)
Prevalence and etiology of epilepsy in a Norwegian county-A population based study
Epilepsia, 56 (5), 699-706
DOI 10.1111/epi.12972, PubMed 25810072

Tesson C, Koht J, Stevanin G (2015)
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology
Hum Genet, 134 (6), 511-38
DOI 10.1007/s00439-015-1536-7, PubMed 25758904

Publications 2014

Koht J, Rengmark A, Opladen T, Bjørnarå KA, Selberg T, Tallaksen CM, Blau N, Toft M (2014)
Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene
Acta Neurol Scand Suppl (198), 7-12
DOI 10.1111/ane.12230, PubMed 24588500

Wedding IM, Koht J, Tran GT, Misceo D, Selmer KK, Holmgren A, Frengen E, Bindoff L, Tallaksen CM, Tzoulis C (2014)
Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions
PLoS One, 9 (1), e86340
DOI 10.1371/journal.pone.0086340, PubMed 24466038

Publications 2013

Wedding IM, Koht J, Dietrichs E, Landrø NI, Tallaksen CM (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 Neurol, 13, 186
DOI 10.1186/1471-2377-13-186, PubMed 24289098

Publications 2012

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T et al. (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
J Neurol Neurosurg Psychiatry, 83 (10), 956-62
DOI 10.1136/jnnp-2012-302505, PubMed 22832740

Publications 2011

Koht J, Stevanin G, Durr A, Mundwiller E, Brice A, Tallaksen CM (2011)
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene
Acta Neurol Scand, 125 (2), 116-22
DOI 10.1111/j.1600-0404.2011.01504.x, PubMed 21434874

Publications 2009

Anheim M, Monga B, Fleury M, Charles P, Barbot C, Salih M, Delaunoy JP, Fritsch M, Arning L, Synofzik M, Schöls L, Sequeiros J, Goizet C, Marelli C, Le Ber I, Koht J, Gazulla J, De Bleecker J, Mukhtar M, Drouot N, Ali-Pacha L, Benhassine T, Chbicheb M, M'Zahem A, Hamri A et al. (2009)
Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients
Brain, 132 (Pt 10), 2688-98
DOI 10.1093/brain/awp211, PubMed 19696032

Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM (2009)
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study
Brain, 132 (Pt 6), 1577-88
DOI 10.1093/brain/awp056, PubMed 19339254

Koht J, Bjørnarå KA, Jørum E, Tallaksen CM (2009)
Ataxia with vitamin E deficiency in southeast Norway, case report
Acta Neurol Scand Suppl (189), 42-5
DOI 10.1111/j.1600-0404.2009.01214.x, PubMed 19566498

Publications 2007

Koht J, Tallaksen CM (2007)
Cerebellar ataxia in the eastern and southern parts of Norway
Acta Neurol Scand Suppl, 187, 76-9
DOI 10.1111/j.1600-0404.2007.00853.x, PubMed 17419835

Nakken KO, Brodtkorb E, Koht J (2007)
[Epilepsy and rehabilitation]
Tidsskr Nor Laegeforen, 127 (3), 309-12
PubMed 17279111

Publications 2006

Solberg DK, Koht J, Refsum H (2006)
[A 74-year-old unconscious woman with myoclonia and seizures]
Tidsskr Nor Laegeforen, 126 (17), 2275-6
PubMed 16977723

Publications 2005

Koht J, Braathen GJ, Neubert D, Russell MB (2005)
[Cerebral cavernous malformations]
Tidsskr Nor Laegeforen, 125 (15), 2008-10
PubMed 16100539