Broad Phenotypic Heterogeneity due to a Novel SCN1A Mutation in a Family With Genetic Epilepsy With Febrile Seizures Plus

Molecular genetics of Dravet syndrome

(2011) PETER DE JONGHE   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

Clinical spectrum ofSCN1Amutations

(2009) Antonio Gambardella et al.   EPILEPSIA

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

A CACNB4 mutation shows that altered Cav2.1 function may be a genetic modifier of severe myoclonic epilepsy in infancy

(2008) Iori Ohmori et al.   NEUROBIOLOGY OF DISEASE

Monozygotic Twins With Severe Myoclonic Epilepsy in Infancy Discordant for Clinical Features

(2008) Sahoko Miyama et al.   PEDIATRIC NEUROLOGY