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

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

Gain-of-function mutation in Gnao1: A murine model of epileptiform encephalopathy (EIEE17)?

(2014) Jason M. Kehrl et al.   MAMMALIAN GENOME

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

(2013) Hirofumi Kodera et al.   EPILEPSIA

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

Modeling human epilepsy by TALEN targeting of mouse sodium channelScn8a

(2013) Julie M. Jones et al.   GENESIS

Incidence and mechanisms of cardiorespiratory arrests in epilepsy monitoring units (MORTEMUS): a retrospective study

(2013) Philippe Ryvlin et al.   LANCET 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

Focal Scn1a knockdown induces cognitive impairment without seizures

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

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

Interaction of Voltage-gated Sodium Channel Nav1.6 (SCN8A) with Microtubule-associated Protein Map1b

(2012) Janelle E. O'Brien et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aberrant sodium channel activity in the complex seizure disorder ofCelf4mutant mice

(2012) Wenzhi Sun et al.   JOURNAL OF PHYSIOLOGY-LONDON

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

Neurogenesis is enhanced and mossy fiber sprouting arises in FGF7-deficient mice during development

(2012) Clara H. Lee et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

(2012) Sung Han et al.   NATURE

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

(2011) Francesco Nicita et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

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

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

(2009) Ligia A. Papale et al.   HUMAN MOLECULAR GENETICS

Cell-Type-Dependent Molecular Composition of the Axon Initial Segment

(2009) A. Lorincz et al.   JOURNAL OF NEUROSCIENCE

The ataxia3 Mutation in the N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking

(2009) L. M. Sharkey et al.   JOURNAL OF NEUROSCIENCE

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

Exaggerated emotional behavior in mice heterozygous null for the sodium channelScn8a(Nav1.6)

(2008) B. C. McKinney et al.   GENES BRAIN AND BEHAVIOR