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

Clinical implications ofSCN1Amissense and truncation variants in a large Japanese cohort with Dravet syndrome

(2016) Atsushi Ishii et al.   EPILEPSIA

Reliable Next-Generation Sequencing of Formalin-Fixed, Paraffin-Embedded Tissue Using Single Molecule Tags

(2016) Astrid Eijkelenboom et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing

(2016) Lan Qin et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation

(2015) Rocio Acuna-Hidalgo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

(2015) Heng Meng et al.   HUMAN MUTATION

Amplicon Resequencing Identified Parental Mosaicism for Approximately 10% of “de novo”SCN1AMutations in Children with Dravet Syndrome

(2015) Xiaojing Xu et al.   HUMAN MUTATION

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

Somatic Mutations in Cerebral Cortical Malformations

(2014) Saumya S. Jamuar et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

(2012) Jill M. Rodda et al.   ARCHIVES OF NEUROLOGY

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

(2012) A. Brunklaus et al.   BRAIN

CACNA1A variants may modify the epileptic phenotype of Dravet syndrome

(2012) Iori Ohmori et al.   NEUROBIOLOGY OF DISEASE

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

MosaicSCN1Amutations in familial partial epilepsy with antecedent febrile seizures

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

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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

ParentalSCN1Amutation mosaicism in familial Dravet syndrome

(2009) KK Selmer et al.   CLINICAL GENETICS

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

(2009) Mari Akiyama et al.   EPILEPSIA

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

(2009) K Kanai et al.   JOURNAL OF MEDICAL GENETICS

The Pediatric Quality of Life Inventory: Measuring Pediatric Health-Related Quality of Life from the Perspective of Children and Their Parents

(2009) James W. Varni et al.   PEDIATRIC CLINICS OF NORTH AMERICA

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

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