Jeanette Koht

• 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. ISSN 0029-2001. 144(2), s. 1–5. doi: 10.4045/tidsskr.23.0625.
• 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. ISSN 0029-2001. 144(1), s. 1–8. doi: 10.4045/tidsskr.23.0543.
• 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. ISSN 2296-2360. 10, s. 1–13. doi: 10.3389/fped.2022.965282. 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. ISSN 2045-2322. 12(1). doi: 10.1038/s41598-022-06324-2.
• Keller, Mareike; Brennenstuhl, Heiko; Kuseyri Hübschmann, Oya; Manti, Filippo; Julia Palacios, Natalia Alexandra & 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.
• Kuseyri Hübschmann, Oya; 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.
• König, Marton & Koht, Jeanette (2021). Ensidig rødme eller ensidig blekhet? Tidsskrift for Den norske legeforening. ISSN 0029-2001. 141(12), s. 1–3. doi: 10.4045/tidsskr.21.0319.
• Kuseyri Hübschmann, Oya; 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. ISSN 2041-1723. 12(1), s. 1–15. doi: 10.1038/s41467-021-25515-5.
• Shakeshaft, Amy; Panjwani, Naim; McDowall, Robert; Crudgington, Holly; Peña Ceballos, Javier & Andrade, Danielle M. [Vis alle 26 forfattere av denne artikkelen] (2021). Trait impulsivity in Juvenile Myoclonic Epilepsy. Annals of clinical and translational neurology. ISSN 2328-9503. 8(1), s. 138–152. doi: 10.1002/acn3.51255. Fulltekst i vitenarkiv
• 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
• 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. 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. ISSN 2470-9239. s. 1–5. doi: 10.1002/epi4.12434. Fulltekst i vitenarkiv
• Stenshorne, Ida; Rasmussen, Magnhild; Salvanos, Panagiotis; Tallaksen, Chantal; Bindoff, Laurence & Koht, Jeanette (2019). Fever-related ataxia: A case report of CAPOS syndrome. Cerebellum & ataxias. ISSN 2053-8871. 6:2, s. 1–5. doi: 10.1186/s40673-019-0096-3. Fulltekst i vitenarkiv
• 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. ISSN 2376-7839. 5:e343(4), s. 1–6. doi: 10.1212/NXG.0000000000000343. Fulltekst i vitenarkiv
• 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.
• 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
• 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.
• Dahl-Hansen, Eline; Koht, Jeanette & Syvertsen, Marte Roa (2019). Epilepsy at different ages-Etiologies in a Norwegian population. Epilepsia Open. ISSN 2470-9239. 4(1), s. 176–181. doi: 10.1002/epi4.12292. Fulltekst i vitenarkiv
• 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. 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.

• 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.
• Giltvedt, Kaja; Fossmo, Hanne Ludt & Koht, Jeanette (2018). Fysioterapi ved arvelig ataksi. Fysioterapeuten. ISSN 0016-3384. 85(6), s. 22–27.
• Randby, Hans; Salvador, Cathrin Lytomt; Oppebøen, Mari; Skogseid, Inger Marie & Koht, Jeanette (2018). Doparesponsive dystonier. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 138(19), s. 1842–1847. doi: 10.4045/tidsskr.17.0595.
• 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.
• Hoem, Gry & Koht, Jeanette (2017). Fragilt X-assosiert tremor-ataksi-syndrom. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 137(20). doi: 10.4045/tidsskr.17.0317.
• Koht, Jeanette; Hansen, Anniken; Blom, Johanna & Elvik, Anette Holmelid (2017). Dystoni: klassifikasjon, årsak og behandling. Fysioterapeuten. ISSN 0016-3384. 84(1), s. 24–28.
• Ødemark, Elin & Koht, Jeanette (2017). Mannen som falt om i åkeren. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 137(12). doi: 10.4045/tidsskr.16.1011.
• 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. ISSN 1932-6203. 12:e0174667(3), s. 1–19. doi: 10.1371/journal.pone.0174667. 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.
• 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. ISSN 2053-8871. 3. doi: 10.1186/s40673-016-0041-7.
• 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.

• Syvertsen, Marte; Koht, Jeanette & Nakken, Karl Otto (2015). Forekomst av epilepsi i de nordiske landene :. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(18), s. 1641–1645. doi: 10.4045/tidsskr.15.0454.
• 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.
• 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.
• Heimdal, Ketil Riddervold; Sanchez Guixe, Monica; 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. ISSN 1750-1172. 9:146. doi: 10.1186/s13023-014-0146-0. Fulltekst i vitenarkiv
• 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.
• 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. ISSN 1932-6203. 9(1). doi: 10.1371/journal.pone.0086340. Fulltekst i vitenarkiv
• 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. ISSN 1471-2377. 13:186. doi: 10.1186/1471-2377-13-186. 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.
• 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.
• 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 978-82-412-0686-3.
• 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.
• 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.
• 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.
• Koht, Jeanette Aimee & Tallaksen, Chantal (2007). Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurologica Scandinavica. ISSN 0001-6314. 115.

Se alle arbeider i Cristin

• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitorering av pasienter med juvenil myoklonus epilepsi.
• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitoring of pharmacological treatment of patients with juvenile myoclonus epilepsy.
• Fløgstad, Ida; Syvertsen, Marte Roa; Enger, Ulla Helene; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Oppfølging av pasienter med JME.
• ida, fløgstad; Syvertsen, Marte Roa; Koht, Jeanette & Landmark, Cecilie Johannessen (2018). Monitoring of pharmacological treatment of patients with juvenile myoclonus epilepsy.
• Solberg, Marianne & Koht, Jeanette (2017). Oculogyric crises. Tremor and Other Hyperkinetic Movements. ISSN 2160-8288. 7, s. 1–2. doi: 10.7916/D85X2N2D.
• Gerstner, Thorsten; Moland, Siri & Koht, Jeanette (2015). Congenital mirror movements of the hands. Tidsskrift for Den norske legeforening. ISSN 0029-2001. 135(20), s. 1852–1852. doi: 10.4045/tidsskr.15.0733.
• 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.
• Koht, Jeanette & Tallaksen, Chantal (2010). Two new autosomal dominant ataxia loci.
• Koht, Jeanette (2009). Two Norwegian families with SCA14.
• 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.

Se alle arbeider i Cristin