Sodium channel mutations in epilepsy and other neurological disorders.
about
Altered cardiac electrophysiology and SUDEP in a model of Dravet syndromeCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyThe channelopathies: novel insights into molecular and genetic mechanisms of human diseaseInhibitory interneuron deficit links altered network activity and cognitive dysfunction in Alzheimer model.Neuropathic pain develops normally in mice lacking both Na(v)1.7 and Na(v)1.8.Drosophila tools and assays for the study of human diseasesMigraine headache: a review of the molecular genetics of a common disorderThe riluzole derivative 2-amino-6-trifluoromethylthio-benzothiazole (SKA-19), a mixed KCa2 activator and NaV blocker, is a potent novel anticonvulsant.De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPSCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmiaA review of nanoparticle functionality and toxicity on the central nervous systemA novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPaseGlobal Nav1.7 knockout mice recapitulate the phenotype of human congenital indifference to painLacosamide: a new approach to target voltage-gated sodium currents in epileptic disordersPersistent Sodium Current and Its Role in EpilepsyCRL4A(CRBN) E3 ubiquitin ligase restricts BK channel activity and prevents epileptogenesis.Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.Anticonvulsant activity of 2,4(1H)-diarylimidazoles in mice and rats acute seizure models.Modulation of sodium channel inactivation gating by a novel lactam: implications for seizure suppression in chronic limbic epilepsyDe novo SCN2A splice site mutation in a boy with Autism spectrum disorderAnalysis of the mouse mutant Cloth-ears shows a role for the voltage-gated sodium channel Scn8a in peripheral neural hearing loss.Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.The ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular traffickingAltered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalitiesBACE1-/- mice exhibit seizure activity that does not correlate with sodium channel level or axonal localizationNeuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to epilepsy susceptibility.Confirmation of an epilepsy modifier locus on mouse chromosome 11 and candidate gene analysis by RNA-Seq.Low frequency stimulation decreases seizure activity in a mutation model of epilepsy.Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.Gain-of-function mutation in Gnao1: a murine model of epileptiform encephalopathy (EIEE17)?Familial hemiplegic migraine.Fine mapping of an epilepsy modifier gene on mouse Chromosome 19.The genetic relationship between epilepsy and hemiplegic migraineCuring epilepsy: progress and future directionsEpileptogenesis in the immature brain: emerging mechanisms.SCN8A encephalopathy: Research progress and prospectsEvaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.Differential effects of common variants in SCN2A on general cognitive ability, brain physiology, and messenger RNA expression in schizophrenia cases and control individuals.
P2860
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P2860
Sodium channel mutations in epilepsy and other neurological disorders.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Sodium channel mutations in epilepsy and other neurological disorders.
@ast
Sodium channel mutations in epilepsy and other neurological disorders.
@en
type
label
Sodium channel mutations in epilepsy and other neurological disorders.
@ast
Sodium channel mutations in epilepsy and other neurological disorders.
@en
prefLabel
Sodium channel mutations in epilepsy and other neurological disorders.
@ast
Sodium channel mutations in epilepsy and other neurological disorders.
@en
P2860
P356
P1476
Sodium channel mutations in epilepsy and other neurological disorders.
@en
P2093
Jennifer A Kearney
Miriam H Meisler
P2860
P304
P356
10.1172/JCI25466
P407
P577
2005-08-01T00:00:00Z