Influence of common SCN1A promoter variants on the severity of SCN1A ‐related phenotypes

Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

(2018) Iris M. de Lange et al.   EPILEPSIA

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A -related seizure phenotypes

(2018) Iris M. de Lange et al.   EPILEPSIA

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

(2018)   Nature Communications

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

(2017) Elaine C. Wirrell et al.   PEDIATRIC NEUROLOGY

A Point Mutation in SCN1A 5′ Genomic Region Decreases the Promoter Activity and Is Associated with Mild Epilepsy and Seizure Aggravation Induced by Antiepileptic Drug

(2016) Qu-Wen Gao et al.   MOLECULAR NEUROBIOLOGY

Motor neuropathy contributes to crouching in patients with Dravet syndrome

(2016) Cyril Gitiaux et al.   NEUROLOGY

Pitfalls in genetic testing: the story of missedSCN1Amutations

(2016) Tania Djémié et al.   Molecular Genetics & Genomic Medicine

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

(2015) Claudia Passamonti et al.   EPILEPSY & BEHAVIOR

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

TheSCN1AMutation Database: Updating Information and Analysis of the Relationships among Genotype, Functional Alteration, and Phenotype

(2015) Heng Meng et al.   HUMAN MUTATION

Postzygotic single-nucleotide mosaicisms in whole-genome sequences of clinically unremarkable individuals

(2014) August Y Huang et al.   CELL RESEARCH

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Transcription of the Human Sodium Channel SCN1A Gene Is Repressed by a Scaffolding Protein RACK1

(2014) Zhao-Fei Dong et al.   MOLECULAR NEUROBIOLOGY

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

(2013) Dalia Kasperavičiūtė et al.   BRAIN

The SCN1A gene variants and epileptic encephalopathies

(2013) Rashmi Parihar et al.   JOURNAL OF HUMAN GENETICS

Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study

(2013) Nienke E. Verbeek et al.   PLoS One

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

Dravet syndrome: Seizure control and gait in adults with different SCN1A mutations

(2012) Jennifer J. Rilstone et al.   EPILEPSIA

Overall management of patients with Dravet syndrome

(2011) BERTEN CEULEMANS   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

(2010) Renzo Guerrini et al.   EPILEPSIA

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

Deletions of SCN1A 5′ genomic region with promoter activity in Dravet syndrome

(2010) Tojo Nakayama et al.   HUMAN MUTATION

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene

(2010) A. Suls et al.   NEUROLOGY

A long-term follow-up study of Dravet syndrome up to adulthood

(2009) Mari Akiyama et al.   EPILEPSIA

Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

(2009) Krista Mahoney et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Identification of the promoter region and the 5′-untranslated exons of the human voltage-gated sodium channel Nav1.1 gene (SCN1A) and enhancement of gene expression by the 5′-untranslated exons

(2008) Yue-Sheng Long et al.   JOURNAL OF NEUROSCIENCE RESEARCH