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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Clinical review of genetic epileptic encephalopathiesStructure-based assessment of disease-related mutations in human voltage-gated sodium channels.Tetrodotoxin (TTX) as a therapeutic agent for pain.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyIncorporating Functional Information in Tests of Excess De Novo Mutational Load.Epigenetic mechanisms in stroke and epilepsy.Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation.Genetic forms of epilepsies and other paroxysmal disordersImproving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.De novo genic mutations among a Chinese autism spectrum disorder cohort.SUMOylation of NaV1.2 channels mediates the early response to acute hypoxia in central neurons.Perinatal and early postnatal factors underlying developmental delay and disabilities.The SCN1A gene variants and epileptic encephalopathies.Mutational consequences of aberrant ion channels in neurological disorders.Genotype phenotype associations across the voltage-gated sodium channel family.Voltage-gated sodium channels in the mammalian heart.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Voltage-Gated Na+ Channels: Not Just for Conduction.SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to PhenobarbitalSCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresA novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read.Backbone resonance assignments of complexes of human voltage-dependent sodium channel NaV1.2 IQ motif peptide bound to apo calmodulin and to the C-domain fragment of apo calmodulin.'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.Benign and severe early-life seizures: a round in the first year of life.Mutations inPRRT2are not a common cause of infantile epileptic encephalopathies
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Clinical spectrum of SCN2A mutations.
@en
Clinical spectrum of SCN2A mutations.
@nl
type
label
Clinical spectrum of SCN2A mutations.
@en
Clinical spectrum of SCN2A mutations.
@nl
prefLabel
Clinical spectrum of SCN2A mutations.
@en
Clinical spectrum of SCN2A mutations.
@nl
P2093
P1476
Clinical spectrum of SCN2A mutations
@en
P2093
Eiji Nakagawa
Hirokazu Kurahashi
Satoshi Uchiya
Sawa Yasumoto
Tatsuya Fukasawa
P304
P356
10.1016/J.BRAINDEV.2011.09.016
P577
2011-10-24T00:00:00Z