Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
about
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeObtaining genetic testing in pediatric epilepsyProtocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.Genetic testing in epilepsy: what should you be doing?Cadherin-based transsynaptic networks in establishing and modifying neural connectivity.A complex of Protocadherin-19 and N-cadherin mediates a novel mechanism of cell adhesion.Tetraspanin 6: A novel regulator of hippocampal synaptic transmission and long term plasticity.Genetic variations and associated pathophysiology in the management of epilepsy.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.Structural determinants of adhesion by Protocadherin-19 and implications for its role in epilepsy.PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.Cadherins in brain morphogenesis and wiring.Genetics of epilepsy and relevance to current practice.Epileptic encephalopathies (including severe epilepsy syndromes).Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Clinical management of epileptic encephalopathies of childhood and infancy.Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.Male patients affected by mosaic PCDH19 mutations: five new cases.Regulation of neural circuit formation by protocadherins.Genetic Testing in Pediatric Epilepsy.Dravet syndrome and its mimics: Beyond SCN1A.The clinical spectrum of female epilepsy patients with PCDH19 mutations in a Chinese population.Identification of four novel PCDH19 Mutations and prediction of their functional impact.Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases.STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.Identification of genomic deletions spanning the PCDH19 gene in two unrelated girls with intellectual disability and seizures.Expression of delta-protocadherins in the spinal cord of the chicken embryo.Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report.
P2860
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P2860
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Mutations and deletions in PCD ...... solated epilepsies in females.
@ast
Mutations and deletions in PCD ...... solated epilepsies in females.
@en
Mutations and deletions in PCD ...... solated epilepsies in females.
@nl
type
label
Mutations and deletions in PCD ...... solated epilepsies in females.
@ast
Mutations and deletions in PCD ...... solated epilepsies in females.
@en
Mutations and deletions in PCD ...... solated epilepsies in females.
@nl
prefLabel
Mutations and deletions in PCD ...... solated epilepsies in females.
@ast
Mutations and deletions in PCD ...... solated epilepsies in females.
@en
Mutations and deletions in PCD ...... solated epilepsies in females.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutations and deletions in PCD ...... solated epilepsies in females.
@en
P2093
Agathe Roubertie
Agnès Gautier
Alexis Arzimanoglou
Anna Kaminska
Anne Dusser
Annie Lannuzel
Christel Depienne
Cyril Mignot
Delphine Bouteiller
Dominique Steschenko
P2860
P304
P356
10.1002/HUMU.21373
P50
P577
2011-01-01T00:00:00Z