A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy
about
De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancySodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizuresNoninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancyTruncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plusDisruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and miceDevelopmental neurotoxicity of pyrethroid insecticides: critical review and future research needsGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practiceIon channels and epilepsySodium channels SCN1A, SCN2A and SCN3A in familial autismStructural requirements for interaction of sodium channel beta 1 subunits with ankyrinMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)Regulation of hippocampal and behavioral excitability by cyclin-dependent kinase 5.Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancyGene expression in cortical interneuron precursors is prescient of their mature function.Childhood absence epilepsy: genes, channels, neurons and networks.Inherited disorders of voltage-gated sodium channels.Selection and evaluation of tagging SNPs in the neuronal-sodium-channel gene SCN1A: implications for linkage-disequilibrium gene mapping.Axon physiology.Identification of epilepsy genes in human and mouseAdvancing the medical management of epilepsy: disease modification and pharmacogenetics.The neuronal channelopathies.Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?Genetics and function of neocortical GABAergic interneurons in neurodevelopmental disordersPharmacogenomics in the treatment of epilepsy.Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Multidisciplinary approach to childhood epilepsy: exploring the scientific rationale and practical aspects of implementation.Inherited Channelopathies Associated with Epilepsy.Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGenetics of idiopathic epilepsies.Incidence of Dravet Syndrome in a US Population.Sodium channel mutations in epilepsy and other neurological disorders.Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.n-Alcohols inhibit voltage-gated Na+ channels expressed in Xenopus oocytes.Scn2a sodium channel mutation results in hyperexcitability in the hippocampus in vitro.Novel isoforms of the sodium channels Nav1.8 and Nav1.5 are produced by a conserved mechanism in mouse and rat.Huperzine A Provides Robust and Sustained Protection against Induced Seizures in Scn1a Mutant Mice.A functional null mutation of SCN1B in a patient with Dravet syndrome.Association of SCN1A gene polymorphism with antiepileptic drug responsiveness in the population of Thrace, Greece.
P2860
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P2860
A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy
description
2001 nî lūn-bûn
@nan
2001 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@ast
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@en
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@nl
type
label
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@ast
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@en
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@nl
prefLabel
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@ast
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@en
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@nl
P2093
P2860
P3181
P356
P1476
A novel SCN1A mutation associa ...... ants in patients with epilepsy
@en
P2093
P2860
P304
P3181
P356
10.1086/319524
P407
P50
P577
2001-04-01T00:00:00Z