Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Item
http://www.wikidata.org/entity/Q34359072
Moving gating charges through the gating pore in a Kv channel voltage sensor.Autism spectrum disorder and epileptic encephalopathy: common causes, many questions.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy.Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.SCN1A Gene Mutation and Adaptive Functioning in 18 Vietnamese Children with Dravet Syndrome.Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.The SCN1A gene variants and epileptic encephalopathies.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Regulation of neural circuit formation by protocadherins.The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.
P2860

Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Item
http://www.wikidata.org/entity/Q34359072
description
2012 nî lūn-bûn
@nan
2012 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@ast
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@en
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@nl
type
label
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@ast
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@en
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@nl
prefLabel
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@ast
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@en
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P407
P433
P478
P577
P5875
P698
P932
P356
P1433
P1476
Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.
@en
P2093
P2860
P304
P31
P356
10.1371/JOURNAL.PONE.0041802
P407
P433
P478
P577
P5875
P698
P932