The genetics of Dravet syndrome

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

(2010) Renzo Guerrini 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

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

(2010) A. Suls et al.   NEUROLOGY

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

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

(2009) Carla Marini et al.   EPILEPSIA

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

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

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

(2009) Christel Depienne et al.   PLoS Genetics

Epilepsy and mental retardation limited to females: an under-recognized disorder

(2008) Ingrid E. Scheffer et al.   BRAIN

How do mutant Nav1.1 sodium channels cause epilepsy?

(2008) David S. Ragsdale   BRAIN RESEARCH REVIEWS

Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy

(2008) Ji-wen Wang et al.   EPILEPSIA

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

(2008) W. A. Catterall et al.   JOURNAL OF NEUROSCIENCE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS