List of works - Jeanette Koht

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

scientific article published on 12 January 2016

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy

scientific article published on 15 November 2018

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

scientific article published on 20 August 2009

Ataxia with vitamin E deficiency in southeast Norway, case report.

scientific article published in January 2009

Benign hereditary chorea, not only chorea: a family case presentation

scientific article

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

scientific article

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

article

Cerebellar ataxia in the eastern and southern parts of Norway

scientific article published in January 2007

Cerebral cavernous malformations

scientific article

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

scientific article

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

scientific article

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

scientific article

Congenital mirror movements of the hands

scientific article published on 03 November 2015

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

scientific article published on 12 October 2017

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

scientific article

Dopa-responsive dystonia

scientific article published on 26 November 2018

Dystonia induced by drug treatment

scientific article published on 8 November 2016

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

scientific article published on 29 October 2020

Epilepsy and rehabilitation

scientific article published on 01 February 2007

Epilepsy at different ages-Etiologies in a Norwegian population

scientific article published on 21 December 2018

Fever-related ataxia: a case report of CAPOS syndrome

scientific article published on 08 February 2019

Homocarnosinosis: A historical update and findings in the SPG11 gene

scientific article published on 06 May 2018

Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy

scientific article published on 30 May 2019

Missense mutations in DYT-TOR1A dystonia

scientific article published on 06 June 2019

Oculogyric Crises.

scientific article published on 24 July 2017

Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy

scientific article published on 24 September 2020

Prevalence and etiology of epilepsy in a Norwegian county-A population based study

scientific article published on 25 March 2015

Prevalence and incidence of epilepsy in the Nordic countries

scientific article

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

scientific article

Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.

scientific article published on 16 November 2016

Psychosocial complications in juvenile myoclonic epilepsy

scientific article published on 22 January 2019

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

scientific article published on 21 March 2011

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

scientific article

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

scientific article (publication date: 2014)

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

scientific article

Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy

scientific article published on 31 July 2020

Trait impulsivity in Juvenile Myoclonic Epilepsy

scientific article published on 02 December 2020

Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy

scientific article published on 19 July 2019

[A 74-year-old unconscious woman with myoclonia and seizures]

scientific article published on 01 September 2006

List of works by Jeanette Koht

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

Antiepileptic drug withdrawal in juvenile myoclonic epilepsy

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Ataxia with vitamin E deficiency in southeast Norway, case report.

Benign hereditary chorea, not only chorea: a family case presentation

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

Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis

Cerebellar ataxia in the eastern and southern parts of Norway

Cerebral cavernous malformations

Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene.

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

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

Congenital mirror movements of the hands

Correction: Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology

Dopa-responsive dystonia

Dystonia induced by drug treatment

Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5

Epilepsy and rehabilitation

Epilepsy at different ages-Etiologies in a Norwegian population

Fever-related ataxia: a case report of CAPOS syndrome

Homocarnosinosis: A historical update and findings in the SPG11 gene

Long-term follow-up with therapeutic drug monitoring of antiepileptic drugs in patients with juvenile myoclonic epilepsy

Missense mutations in DYT-TOR1A dystonia

Oculogyric Crises.

Predictors of high school dropout, anxiety, and depression in genetic generalized epilepsy

Prevalence and etiology of epilepsy in a Norwegian county-A population based study

Prevalence and incidence of epilepsy in the Nordic countries

Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study

Prevalence of juvenile myoclonic epilepsy in people <30 years of age-A population-based study in Norway.

Psychosocial complications in juvenile myoclonic epilepsy

SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene

STUB1 mutations in autosomal recessive ataxias - evidence for mutation-specific clinical heterogeneity

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia

Trait impulsivity correlates with active myoclonic seizures in genetic generalized epilepsy

Trait impulsivity in Juvenile Myoclonic Epilepsy

Treatment and challenges with antiepileptic drugs in patients with juvenile myoclonic epilepsy

[A 74-year-old unconscious woman with myoclonia and seizures]