Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyThe neurogenetics of alternative splicingDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPDe novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsyNav1.1 modulation by a novel triazole compound attenuates epileptic seizures in rodentsAn Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.Prioritizing the development of mouse models for childhood brain disordersAxon initial segment dysfunction in a mouse model of genetic epilepsy with febrile seizures plus.Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus.Preferential inactivation of Scn1a in parvalbumin interneurons increases seizure susceptibilityHidden in plain sight: spike-wave discharges in mouse inbred strains.Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy.Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance.Unraveling genetic modifiers in the gria4 mouse model of absence epilepsyDysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory.Molecular identity of axonal sodium channels in human cortical pyramidal cellsSodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability.A genetic interaction network model of a complex neurological disease.Physiological and genetic analysis of multiple sodium channel variants in a model of genetic absence epilepsyThe splicing regulator Rbfox1 (A2BP1) controls neuronal excitation in the mammalian brain.SWDreader: a wavelet-based algorithm using spectral phase to characterize spike-wave morphological variation in genetic models of absence epilepsy.Action potential initiation in neocortical inhibitory interneurons.Reduced Nav1.6 Sodium Channel Activity in Mice Increases In Vivo Sensitivity to Volatile Anesthetics.Effects of an epilepsy-causing mutation in the SCN1A sodium channel gene on cocaine-induced seizure susceptibility in mice.Genetics of complex neurological disease: challenges and opportunities for modeling epilepsy in mice and rats.Scn8a voltage-gated sodium channel mutation alters seizure and anxiety responses to acute stress.Genomic biomarkers of SUDEP in brain and heart.Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.Axon initial segment dysfunction in epilepsy.Sodium channels and the neurobiology of epilepsy.Emerging mechanisms and consequences of calcium regulation of alternative splicing in neurons and endocrine cells.The SCN1A gene variants and epileptic encephalopathies.The molecular biology of genetic-based epilepsies.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Role of Sodium Channels in Epilepsy.Models and detection of spontaneous recurrent seizures in laboratory rodents.CDYL suppresses epileptogenesis in mice through repression of axonal Nav1.6 sodium channel expression.Complex genetic interactions in a mouse model of absence epilepsy.Altered sleep regulation in a mouse model of SCN1A-derived genetic epilepsy with febrile seizures plus (GEFS+).A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy.
P2860
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P2860
Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.
description
2009 nî lūn-bûn
@nan
2009 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի մարտին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Heterozygous mutations of the ...... and absence epilepsy in mice.
@ast
Heterozygous mutations of the ...... and absence epilepsy in mice.
@en
type
label
Heterozygous mutations of the ...... and absence epilepsy in mice.
@ast
Heterozygous mutations of the ...... and absence epilepsy in mice.
@en
prefLabel
Heterozygous mutations of the ...... and absence epilepsy in mice.
@ast
Heterozygous mutations of the ...... and absence epilepsy in mice.
@en
P2093
P2860
P356
P1476
Heterozygous mutations of the ...... and absence epilepsy in mice.
@en
P2093
Andrew Escayg
Barbara Beyer
Julie M Jones
Ligia A Papale
Lisa M Sharkey
Michael Epstein
Miriam H Meisler
Verity A Letts
Wayne N Frankel
P2860
P304
P356
10.1093/HMG/DDP081
P50
P577
2009-03-02T00:00:00Z