Epileptic activity is a surrogate for an underlying etiology and stopping the activity has a limited impact on developmental outcome

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

(2015) Caroline F Wright et al.   LANCET

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

Dravet syndrome-From epileptic encephalopathy to channelopathy

(2014) Andreas Brunklaus et al.   EPILEPSIA

Does ketogenic diet improve cognitive function in patients with GLUT1-DS? A 6- to 17-month follow-up study

(2014) Anette Ramm-Pettersen et al.   EPILEPSY & BEHAVIOR

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

(2014) Karen L. Oliver et al.   PLoS One

Encephalopathy with status epilepticus during sleep or continuous spikes and waves during slow sleep syndrome: A multicenter, long-term follow-up study of 117 patients

(2013) Roberto Horacio Caraballo et al.   EPILEPSY RESEARCH

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

(2013) Gaetan Lesca et al.   NATURE GENETICS

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

(2013) Gemma L Carvill et al.   NATURE GENETICS

Focal Scn1a knockdown induces cognitive impairment without seizures

(2013) Alex C. Bender et al.   NEUROBIOLOGY OF DISEASE

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

(2013) Mathieu Milh et al.   Orphanet Journal of Rare Diseases

Glucose transporter 1 deficiency in the idiopathic generalized epilepsies

(2012) Todor Arsov et al.   ANNALS OF NEUROLOGY

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

(2012) A. Brunklaus et al.   BRAIN

How Dravet syndrome became a model for studying childhood genetic epilepsies

(2012) C. Dravet   BRAIN

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Heredity in epilepsy: Neurodevelopment, comorbidity, and the neurological trait

(2011) Michael R. Johnson et al.   EPILEPSY & BEHAVIOR

Genotype-phenotype associations in SCN1A-related epilepsies

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

Developmental and epilepsy outcomes at age 4 years in the UKISS trial comparing hormonal treatments to vigabatrin for infantile spasms: a multi-centre randomised trial

(2010) K. Darke et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA