Relationship of electrophysiological dysfunction and clinical severity in SCN2A -related epilepsies

Genetics update: Monogenetics, polygene disorders and the quest for modifying genes

(2018) Joseph D. Symonds et al.   NEUROPHARMACOLOGY

Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies

(2017) Julia Oyrer et al.   PHARMACOLOGICAL REVIEWS

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val

(2016) Katrine M. Johannesen et al.   JOURNAL OF NEUROLOGY

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation

(2016) Liam S. Carroll et al.   PSYCHIATRIC GENETICS

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(2015) Sue Richards et al.   GENETICS IN MEDICINE

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

(2015) N. Schwarz et al.   JOURNAL OF NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

Genotype phenotype associations across the voltage-gated sodium channel family

(2014) Andreas Brunklaus et al.   JOURNAL OF MEDICAL GENETICS

Infantile Epileptic Encephalopathy, Transient Choreoathetotic Movements, and Hypersomnia due to a De Novo Missense Mutation in the SCN2A Gene

(2014) Alessandra Baumer et al.   NEUROPEDIATRICS

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

AnSCN2Amutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na+current

(2013) Stephan Lauxmann et al.   EPILEPSIA

Whole genome sequencing identifiesSCN2Amutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

(2013) Marlin Touma et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Slowly inactivating component of Na+ current in peri-somatic region of hippocampal CA1 pyramidal neurons

(2012) Yul Young Park et al.   JOURNAL OF NEUROPHYSIOLOGY

Ion channels in genetic and acquired forms of epilepsy

(2012) Holger Lerche et al.   JOURNAL OF PHYSIOLOGY-LONDON

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

Compromised function in the Nav1.2 Dravet syndrome mutation R1312T

(2012) Christoph Lossin et al.   NEUROBIOLOGY OF DISEASE

Transient Sodium Current at Subthreshold Voltages: Activation by EPSP Waveforms

(2012) Brett C. Carter et al.   NEURON

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

(2010) Yunxiang Liao et al.   BRAIN

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

(2010) Y. Liao et al.   NEUROLOGY

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures

(2008) Sunita N. Misra et al.   EPILEPSIA