SCN8Aencephalopathy: Research progress and prospects

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(2016) Jan Lotte et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome

(2015) Heather E. Olson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Lai-Wah Eva Fung et al.   EPILEPSIA

SCN8Amutations in Chinese children with early onset epilepsy and intellectual disability

(2015) Weijing Kong et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy

(2015) Maxime G Blanchard et al.   JOURNAL OF MEDICAL GENETICS

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Electroclinical features of epileptic encephalopathy caused bySCN8Amutation

(2015) Satoru Takahashi et al.   PEDIATRICS INTERNATIONAL

Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation

(2015) R. Singh et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Late Sodium Current in Human Atrial Cardiomyocytes from Patients in Sinus Rhythm and Atrial Fibrillation

(2015) Claire Poulet et al.   PLoS One

Whole-exome sequencing broadens the phenotypic spectrum of rare pediatric epilepsy: a retrospective study

(2014) D.A. Dyment et al.   CLINICAL GENETICS

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Dravet syndrome-From epileptic encephalopathy to channelopathy

(2014) Andreas Brunklaus et al.   EPILEPSIA

The Epilepsy Foundation leads in the Rare Epilepsy Network PCORI Award

(2014) Philip Gattone et al.   EPILEPSY & BEHAVIOR

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

(2014) Carolien G.F. de Kovel et al.   EPILEPSY RESEARCH

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

(2014) Jacy L. Wagnon et al.   HUMAN MOLECULAR GENETICS

Contribution of sodium channel neuronal isoform Nav1.1 to late sodium current in ventricular myocytes from failing hearts

(2014) Sudhish Mishra et al.   JOURNAL OF PHYSIOLOGY-LONDON

A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy

(2014) Mark Estacion et al.   NEUROBIOLOGY OF DISEASE

Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance

(2014) Christopher D. Makinson et al.   NEUROBIOLOGY OF DISEASE

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

(2013) Yu Liu et al.   ANNALS OF NEUROLOGY

Modeling human epilepsy by TALEN targeting of mouse sodium channelScn8a

(2013) Julie M. Jones et al.   GENESIS

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons

(2013) Jiao Jiao et al.   HUMAN MOLECULAR GENETICS

De NovoSCN8A Mutation Identified by Whole-Exome Sequencing in a Boy With Neonatal Epileptic Encephalopathy, Multiple Congenital Anomalies, and Movement Disorders

(2013) Ulvi Vaher et al.   JOURNAL OF CHILD NEUROLOGY

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Drug screening in Scn1a zebrafish mutant identifies clemizole as a potential Dravet syndrome treatment

(2013) Scott C. Baraban et al.   Nature Communications

A human Dravet syndrome model from patient induced pluripotent stem cells

(2013) Norimichi Higurashi et al.   Molecular Brain

Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

(2013) Janelle E. O'Brien et al.   Frontiers in Genetics

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The NIH/NINDS Anticonvulsant Screening Program (ASP): Recommendations from the working group’s 2012 review of the Program

(2012)   EPILEPSIA

An AnkyrinG-Binding Motif Is Necessary and Sufficient for Targeting Nav1.6 Sodium Channels to Axon Initial Segments and Nodes of Ranvier

(2012) A. Gasser et al.   JOURNAL OF NEUROSCIENCE

A National Profile of Childhood Epilepsy and Seizure Disorder

(2012) S. A. Russ et al.   PEDIATRICS

A null mutation of the neuronal sodium channel NaV1.6 disrupts action potential propagation and excitation-contraction coupling in the mouse heart

(2011) Sami F. Noujaim et al.   FASEB JOURNAL

Resurgent Na+ current: A new avenue to neuronal excitability control

(2011) Jader S. Cruz et al.   LIFE SCIENCES

Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

(2011) Janelle E. O'Brien et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

UCSC genome browser tutorial

(2008) Ann S. Zweig et al.   GENOMICS

Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy

(2008) Katherine D. Holland et al.   NEUROSCIENCE LETTERS