Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
about
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Dravet syndrome and its mimics: Beyond SCN1A.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 in GABRB3: From febrile seizures to epileptic encephalopathies.Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.Genetic and Molecular Regulation of Extrasynaptic GABA-A Receptors in the Brain: Therapeutic Insights for Epilepsy.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.
P2860
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P2860
Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.
description
2016 nî lūn-bûn
@nan
2016年の論文
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2016年学术文章
@wuu
2016年学术文章
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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
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2016年學術文章
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name
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@en
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@nl
type
label
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@en
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@nl
prefLabel
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@en
Phenotypic spectrum of GABRA1: ...... re epileptic encephalopathies.
@nl
P2093
P50
P1433
P1476
Phenotypic spectrum of GABRA1: ...... ere epileptic encephalopathies
@en
P2093
Abdallah F Elias
Carla Marini
Cindy Hudson
Cristina Elena Niturad
Dana Craiu
Dorota Hoffman-Zacharska
Felicitas Becker
Felix Rosenow
Guido Rubboli
Hande Caglayan
P304
P356
10.1212/WNL.0000000000003087
P407
P50
P577
2016-08-12T00:00:00Z