Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
about
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?Cadherins and catenins in dendrite and synapse morphogenesisGenetic variations and associated pathophysiology in the management of epilepsy.PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.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.Male patients affected by mosaic PCDH19 mutations: five new cases.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.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.Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.Somatic mosaicism of PCDH19 mutation in a family with low-penetrance EFMR.Use of targeted next-generation sequencing for molecular diagnosis of craniosynostosis: Identification of a novel de novo mutation of EFNB1.PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.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
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations.
description
2011 nî lūn-bûn
@nan
2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
name
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@ast
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@en
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@nl
type
label
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@ast
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@en
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@nl
prefLabel
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@ast
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@en
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations.
@nl
P2093
P1433
P1476
Recurrence risk of epilepsy an ...... mosaicism of PCDH19 mutations
@en
P2093
F McKenzie
I E Scheffer
J A Damiano
J C Mulley
P304
P356
10.1212/WNL.0B013E318217E7B6
P407
P577
2011-04-01T00:00:00Z