Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
about
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathyDeleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Models for discovery of targeted therapy in genetic epileptic encephalopathies.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.Critical roles of αII spectrin in brain development and epileptic encephalopathy.Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies.De novo GABRG2 mutations associated with epileptic encephalopathies.
P2860
Q34543571-588855B1-CF2F-4196-A51C-A99B59600D5DQ36131243-49AB44B3-B854-41E0-B0AD-ABAFC0BB23C9Q37634832-D4860766-75F3-4FC9-A519-4BD4563B9ACDQ38795017-79E5457B-1A92-4F09-84EE-94E9E7D9DE75Q39457643-AB4E8254-61F3-471A-8955-1DBA97CCCE25Q47109359-EA2D5CEE-11BB-4F2A-B5E7-4D97653B09F1Q47269323-547BAB2B-7F90-481B-A094-4C05AC04BE5AQ47778090-648624DA-04D6-45DE-A568-F1512D0F3155Q47862542-E5B6A28C-43A3-407B-8E45-3007E76460D1Q48129765-433AE469-6F67-4BA3-BA40-5B0B049DE498Q48423972-19B01209-A544-420C-9C98-CB0A11563AEF
P2860
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
description
2016 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2016 թվականի մարտին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2016
@ast
im März 2016 veröffentlichter wissenschaftlicher Artikel
@de
scientific journal article
@en
vedecký článok (publikovaný 2016/03/07)
@sk
vědecký článek publikovaný v roce 2016
@cs
wetenschappelijk artikel (gepubliceerd op 2016/03/07)
@nl
наукова стаття, опублікована в березні 2016
@uk
مقالة علمية (نشرت في 7-3-2016)
@ar
name
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@ast
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@en
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@nl
type
label
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@ast
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@en
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@nl
prefLabel
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@ast
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@en
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@nl
P2093
P2860
P3181
P356
P1433
P1476
Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function
@en
P2093
Kelienne M Verdier
Ningning Hu
Robert L Macdonald
Vaishali S Janve
P2860
P304
P3181
P356
10.1002/ANA.24631
P577
2016-03-07T00:00:00Z