Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
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RELN Mutations in Autism Spectrum DisorderHuman GRIN2B variants in neurodevelopmental disordersA de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia.Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains.Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.GABA A Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy.Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.The de novo autism spectrum disorder RELN R2290C mutation reduces Reelin secretion and increases protein disulfide isomerase expression.Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism.Clinical utility of exome sequencing in individuals with large homozygous regions detected by chromosomal microarray analysis.Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.
P2860
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P2860
Gene Mutation Analysis in 253 Chinese Children with Unexplained Epilepsy and Intellectual/Developmental Disabilities.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年学术文章
@wuu
2015年学术文章
@zh-cn
2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
@zh-sg
2015年學術文章
@yue
2015年學術文章
@zh
2015年學術文章
@zh-hant
name
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@ast
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@en
type
label
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@ast
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@en
prefLabel
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@ast
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@en
P2093
P2860
P1433
P1476
Gene Mutation Analysis in 253 ...... al/Developmental Disabilities.
@en
P2093
Jingmin Wang
Weijing Kong
Xiaoyan Liu
Yujia Zhang
P2860
P304
P356
10.1371/JOURNAL.PONE.0141782
P407
P50
P577
2015-11-06T00:00:00Z