A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
about
Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsTrafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segmentCurrent research on opioid receptor function.Tracks through the genome to physiological eventsOpposing Effects on NaV1.2 Function Underlie Differences Between SCN2A Variants Observed in Individuals With Autism Spectrum Disorder or Infantile Seizuresdelta-Opioid receptors protect from anoxic disruption of Na+ homeostasis via Na+ channel regulationAction potential initiation in neocortical inhibitory interneurons.Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker.Dissection of voltage-gated sodium channels in developing cochlear sensory epithelia.Conotoxins that confer therapeutic possibilities.De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsiesAxon initial segment dysfunction in epilepsy.Na+ channelopathies and epilepsy: recent advances and new perspectives.Sodium channels and the neurobiology of epilepsy.Conservation of alternative splicing in sodium channels reveals evolutionary focus on release from inactivation and structural insights into gating.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Role of Sodium Channels in Epilepsy.Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.Dravet syndrome and its mimics: Beyond SCN1A.Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.Novel mRNA isoforms of the sodium channels Na(v)1.2, Na(v)1.3 and Na(v)1.7 encode predicted two-domain, truncated proteins.'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.Progress in Understanding and Treating SCN2A-Mediated Disorders.Epilepsy syndromes during the first year of life and the usefulness of an epilepsy gene panel.Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of epilepsy
P2860
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P2860
A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
A childhood epilepsy mutation ...... splicing of a sodium channel.
@en
type
label
A childhood epilepsy mutation ...... splicing of a sodium channel.
@en
prefLabel
A childhood epilepsy mutation ...... splicing of a sodium channel.
@en
P2093
P50
P1476
A childhood epilepsy mutation ...... splicing of a sodium channel.
@en
P2093
Elena V Gazina
Ingrid E Scheffer
John C Mulley
Misty Jenkins
P304
P356
10.1016/J.MCN.2007.03.003
P577
2007-03-13T00:00:00Z