Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
about
Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsDe novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEPCloning and expression of the two new variants of Nav1.5/SCN5A in rat brainAn Scn1a epilepsy mutation in Scn8a alters seizure susceptibility and behavior.Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice.BACE1-/- mice exhibit seizure activity that does not correlate with sodium channel level or axonal localizationBlockage of the upregulation of voltage-gated sodium channel nav1.3 improves outcomes after experimental traumatic brain injury.Physiological bases of the K+ and the glutamate/GABA hypotheses of epilepsy.A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndromeFine mapping of an epilepsy modifier gene on mouse Chromosome 19.SCN8A encephalopathy: Research progress and prospectsDysfunction of the Scn8a voltage-gated sodium channel alters sleep architecture, reduces diurnal corticosterone levels, and enhances spatial memory.A novel Nav1.7 mutation producing carbamazepine-responsive erythromelalgia.Antiepileptic activity of preferential inhibitors of persistent sodium currentDoes epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?Inherited neuronal ion channelopathies: new windows on complex neurological diseases.Expression of voltage-gated sodium channel Nav1.3 is associated with severity of traumatic brain injury in adult ratsGenetic variations and associated pathophysiology in the management of epilepsy.Mutant SOD1 protein increases Nav1.3 channel excitabilityNovel SCN3A variants associated with focal epilepsy in children.Clinical exome sequencing: results from 2819 samples reflecting 1000 families.The beta-secretase enzyme BACE in health and Alzheimer's disease: regulation, cell biology, function, and therapeutic potential.Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects.Sodium channel SCN1A and epilepsy: mutations and mechanisms.Pain disorders and erythromelalgia caused by voltage-gated sodium channel mutations.Na+ channelopathies and epilepsy: recent advances and new perspectives.Sodium channels, the electrogenisome and the electrogenistat: lessons and questions from the clinic.Voltage-gated sodium channels: biophysics, pharmacology, and related channelopathies.Neurological perspectives on voltage-gated sodium channels.Duplication of the sodium channel gene cluster on 2q24 in children with early onset epilepsy.The molecular biology of genetic-based epilepsies.The relationship between genes affecting the development of epilepsy and approaches to epilepsy therapy.Genotype phenotype associations across the voltage-gated sodium channel family.Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.Voltage gated sodium channels as drug discovery targetsIon Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Pharmacokinetics and Pharmacogenetics of Carbamazepine in Children.SCN2A-Related Early-Onset Epileptic Encephalopathy Responsive to Phenobarbital
P2860
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P2860
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
2008年论文
@zh
2008年论文
@zh-cn
name
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
@en
Mutation of sodium channel SCN ...... ic pediatric partial epilepsy.
@nl
type
label
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
@en
Mutation of sodium channel SCN ...... ic pediatric partial epilepsy.
@nl
prefLabel
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
@en
Mutation of sodium channel SCN ...... ic pediatric partial epilepsy.
@nl
P2093
P2860
P1433
P1476
Mutation of sodium channel SCN3A in a patient with cryptogenic pediatric partial epilepsy
@en
P2093
Gerri Buck
Ian W Glaaser
Jennifer A Kearney
John R Blankston
Katherine D Holland
Mehdi Keddache
Miriam H Meisler
Robert S Kass
Tracy A Glauser
P2860
P356
10.1016/J.NEULET.2007.12.064
P407
P577
2008-01-11T00:00:00Z