De novoSCN1Apathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families

(2015) Andreas Brunklaus et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

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

(2015) Xiaojing Xu et al.   HUMAN MUTATION

SCN1Atesting for epilepsy: Application in clinical practice

(2013) Shinichi Hirose et al.   EPILEPSIA

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

(2012) Anna Ka-Yee Kwong et al.   PLoS One

Molecular genetics of Dravet syndrome

(2011) PETER DE JONGHE   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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