Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
about
Intragenic CNTNAP2 Deletions: A Bridge Too Far?Loss of Cntnap2 Causes Axonal Excitability Deficits, Developmental Delay in Cortical Myelination, and Abnormal Stereotyped Motor Behavior.CNTNAP2 stabilizes interneuron dendritic arbors through CASK.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Toward the Language Oscillogenome
P2860
Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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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-hant
name
Eight further individuals with ...... ional and phenotypic spectrum.
@en
Eight further individuals with ...... ional and phenotypic spectrum.
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type
label
Eight further individuals with ...... ional and phenotypic spectrum.
@en
Eight further individuals with ...... ional and phenotypic spectrum.
@nl
prefLabel
Eight further individuals with ...... ional and phenotypic spectrum.
@en
Eight further individuals with ...... ional and phenotypic spectrum.
@nl
P2093
P2860
P50
P1476
Eight further individuals with ...... ional and phenotypic spectrum.
@en
P2093
Alison Cleall
Charlotte Noakes
Damien Lederer
Deborah Shears
Isabelle Maystadt
Juliane Hoyer
Knut Brockmann
Lucy Raymond
Marie Deprez
Marie Shaw
P2860
P304
P356
10.1136/JMEDGENET-2016-103880
P407
P577
2016-07-20T00:00:00Z