Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.
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Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizuresNoninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancyGeneration of the SCN1A epilepsy mutation in hiPS cells using the TALEN technique.Functional properties and differential neuromodulation of Na(v)1.6 channels.Fibroblast growth factor homologous factors: evolution, structure, and function.Sodium channel mutations in epilepsy and other neurological disorders.Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome.Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome.Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.Dravet syndrome: insights from in vitro experimental models.Molecular and cellular basis: insights from experimental models of Dravet syndrome.Untangling the dravet syndrome seizure network: the changing face of a rare genetic epilepsyThe SCN1A mutation database: updating information and analysis of the relationships among genotype, functional alteration, and phenotype.Altered PKA modulation in the Na(v)1.1 epilepsy variant I1656M.Different degrees of loss of function between GEFS+ and SMEI Nav 1.1 missense mutants at the same residue induced by rescuable folding defects.Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations.SCN1A in SMEI, ICEGTC, and GEFS+: Alphabet Soup or Emerging Genotypic-Phenotypic Clarity?A plethora of SCN1A mutations: what can they tell us?Mutagenesis of the NaChBac sodium channel discloses a functional role for a conserved S6 asparagine.Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.A novel variant in the 3' UTR of human SCN1A gene from a patient with Dravet syndrome decreases mRNA stability mediated by GAPDH's binding.Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
P2860
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P2860
Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.
description
2003 nî lūn-bûn
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2003年の論文
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2003年学术文章
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2003年学术文章
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2003年学术文章
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2003年学术文章
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name
Nav1.1 channels with mutations ...... y display attenuated currents.
@en
Nav1.1 channels with mutations ...... y display attenuated currents.
@nl
type
label
Nav1.1 channels with mutations ...... y display attenuated currents.
@en
Nav1.1 channels with mutations ...... y display attenuated currents.
@nl
prefLabel
Nav1.1 channels with mutations ...... y display attenuated currents.
@en
Nav1.1 channels with mutations ...... y display attenuated currents.
@nl
P2093
P1433
P1476
Nav1.1 channels with mutations ...... cy display attenuated currents
@en
P2093
Emi Mazaki-Miyazaki
Keiichi Nagata
Mauricio Montal
Takashi Sugawara
Tateki Fujiwara
Yuji Tsurubuchi
Yushi Inoue
P304
P356
10.1016/S0920-1211(03)00084-6
P577
2003-05-01T00:00:00Z