Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1mutation

(2012) John F Staropoli et al.   BMC Medical Genetics

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

(2011) C. B. Catarino et al.   BRAIN

Borderline Dravet syndrome: A useful diagnostic category?

(2011) Renzo Guerrini et al.   EPILEPSIA

Acute encephalopathy in children with Dravet syndrome

(2011) Akihisa Okumura et al.   EPILEPSIA

Encephalopathy and SCN1A mutations

(2011) Shan Tang et al.   EPILEPSIA

The genetics of Dravet syndrome

(2011) Carla Marini et al.   EPILEPSIA

Biochemical analysis of the G517V POLG variant reveals wild-type like activity

(2011) Rajesh Kasiviswanathan et al.   MITOCHONDRION

Acute encephalopathy with a truncation mutation in the SCN1A gene: A case report

(2010) Masaru Takayanagi et al.   EPILEPSIA

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

(2010) François Le Gal et al.   EPILEPSIA

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

Hepatic coma culminating in severe brain damage in a child with a SCN1A mutation

(2010) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Unusual consequences of status epilepticus in Dravet syndrome

(2010) M. Chipaux et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients

(2009) Francesca Ragona et al.   BRAIN & DEVELOPMENT

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

(2009) Takafumi Sakakibara et al.   EPILEPSIA

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

(2009) Mari Akiyama et al.   EPILEPSIA

Digenic mutations in severe myoclonic epilepsy of infancy

(2009) Maija Bolszak et al.   EPILEPSY RESEARCH

Long term prognosis of symptomatic occipital lobe epilepsy secondary to neonatal hypoglycemia

(2009) Hesham Montassir et al.   EPILEPSY RESEARCH

Rare Autosomal Dominant POLG1 Mutation in a Family With Metabolic Strokes, Posterior Column Spinal Degeneration, and Multi-Endocrine Disease

(2009) Sarah E. Hopkins et al.   JOURNAL OF CHILD NEUROLOGY

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

(2009) Christel Depienne et al.   PLoS Genetics

Development of hippocampal sclerosis after a complex febrile seizure

(2008) Andreas Merkenschlager et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

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