PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
about
Loss of X-linked Protocadherin-19 differentially affects the behavior of heterozygous female and hemizygous male miceStructural determinants of adhesion by Protocadherin-19 and implications for its role in 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.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature.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
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年学术文章
@wuu
2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
@zh
2016年學術文章
@zh-hant
name
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@en
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@nl
type
label
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@en
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@nl
prefLabel
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@en
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant.
@nl
P2093
P2860
P356
P1476
PCDH19-related epileptic encephalopathy in a male mosaic for a truncating variant
@en
P2093
Ahmed Abdelmoity
Carol Saunders
Emily Farrow
Isabelle Thiffault
Jennifer Lowry
Laurie Smith
Lee Zellmer
Neil Miller
Sarah Soden
P2860
P304
P356
10.1002/AJMG.A.37617
P407
P577
2016-03-26T00:00:00Z