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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

Annals of neurology, 2016-03, Vol.79 (3), p.428-436

2016

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A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation

Seizure (London, England), 2015-11, Vol.32, p.52-61

2015

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The glucose transporter type 1 (Glut1) syndromes

Epilepsy & behavior, 2019-02, Vol.91, p.90-93

2019

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Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Annals of neurology, 2009-09, Vol.66 (3), p.415-419

2009

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Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

eLife, 2019-09, Vol.8

2019

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GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

The Journal of clinical investigation, 2008-06, Vol.118 (6), p.2157-2168

2008

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GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

Movement disorders, 2009-08, Vol.24 (11), p.1684-1688

2009

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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

EBioMedicine, 2022-10, Vol.84, p.104244-104244, Article 104244

2022

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The role of genetic testing in epilepsy diagnosis and management

Expert review of molecular diagnostics, 2017-08, Vol.17 (8), p.739-750

2017

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Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Lancet neurology, 2018-08, Vol.17 (8), p.699-708

2018

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A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy

Annals of neurology, 2006-06, Vol.59 (6), p.983-987

2006

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Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

Epilepsia (Copenhagen), 2015-09, Vol.56 (9), p.e129-e133

2015

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A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

Annals of neurology, 2006-06, Vol.59 (6), p.983-987

2006

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Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Epilepsia (Copenhagen), 2004-06, Vol.45 (6), p.601-609

2004

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Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

Epilepsia (Copenhagen), 2013-02, Vol.54 (2), p.265-271

2013

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SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG

Neuropediatrics, 2015-08, Vol.46 (4), p.287

2015

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Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

European journal of medical genetics, 2020-04, Vol.63 (4), p.103850-103850, Article 103850

2020

Volltextzugriff (PDF)

Genetics of paroxysmal dyskinesias

Current neurology and neuroscience reports, 2009-05, Vol.9 (3), p.206-211

2009

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Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

Human mutation, 2009-03, Vol.30 (3), p.397-405

2009

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Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy

Seizure (London, England), 2013-07, Vol.22 (6), p.483-486

2013

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Development of a rapid functional assay that predicts GLUT1 disease severity

Neurology. Genetics, 2018-12, Vol.4 (6), p.e297-e297

2018

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Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

Seizure (London, England), 2013-07, Vol.22 (6), p.483-486

2013

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Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies

Epilepsia (Copenhagen), 2006-10, Vol.47 (10), p.1682-1690

2006

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Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

A prospective, multicenter study of cardiac-based seizure detection to activate vagus nerve stimulation

The glucose transporter type 1 (Glut1) syndromes

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

Long-term adult human brain slice cultures as a model system to study human CNS circuitry and disease

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak

GLUT1 gene mutations cause sporadic paroxysmal exercise-induced dyskinesias

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies

The role of genetic testing in epilepsy diagnosis and management

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

A mutation in the GABAA receptor α1-subunit is associated with absence epilepsy

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

A mutation in the GABA(A) receptor alpha(1)-subunit is associated with absence epilepsy

Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12‐q12 in 14 Families

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG

Jumonji domain containing 1C (JMJD1C) sequence variants in seven patients with autism spectrum disorder, intellectual disability and seizures

Genetics of paroxysmal dyskinesias

Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy

Development of a rapid functional assay that predicts GLUT1 disease severity

Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies

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