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

A novel variant in the 3′ UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH’s binding

(2014) Tao Zeng et al.   HUMAN GENETICS

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

(2014)   LANCET NEUROLOGY

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

(2013) Yu Liu et al.   ANNALS OF NEUROLOGY

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

PGD for germline mosaicism

(2012) Gheona Altarescu et al.   REPRODUCTIVE BIOMEDICINE ONLINE

An interstitial duplication at 2q24.3 involving the SCN1A, SCN2A, SCN3A genes associated with infantile epilepsy

(2011) Gerald Raymond et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene

(2011) Nienke E. Verbeek et al.   EPILEPSIA

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

(2011) Cristina Petrelli et al.   EPILEPSY RESEARCH

MosaicSCN1Amutations in familial partial epilepsy with antecedent febrile seizures

(2011) Y.-W. Shi et al.   GENES BRAIN AND BEHAVIOR

SCN1A mutational analysis in Korean patients with Dravet syndrome

(2011) Byung Chan Lim et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Two Novel Mutations in SCN1A Gene in Iranian Patients with Epilepsy

(2010) Ahmad Ebrahimi et al.   ARCHIVES OF MEDICAL RESEARCH

Partial epilepsy with antecedent febrile seizures and seizure aggravation by antiepileptic drugs: Associated with loss of function of Nav1.1

(2010) Wei-Ping Liao et al.   EPILEPSIA

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

(2010) Ruth Ottman et al.   EPILEPSIA

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

(2010) Tojo Nakayama et al.   HUMAN MUTATION

Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome

(2010) Huihui Sun et al.   JOURNAL OF HUMAN GENETICS

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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

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

(2010) A. Suls et al.   NEUROLOGY

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

(2009) KK Selmer et al.   CLINICAL GENETICS

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini 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

Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Nav1.1 (SCN1A) Na+ Channel

(2008) S. Cestele et al.   JOURNAL OF NEUROSCIENCE

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