Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
about
sameAs
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.Sexually dimorphic expression of KCC2 and GABA function.Mutations affecting GABAergic signaling in seizures and epilepsy.Familial clustering of seizure types within the idiopathic generalized epilepsies.mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.A genetic interaction network model of a complex neurological disease.Dodecyl maltopyranoside enabled purification of active human GABA type A receptors for deep and direct proteomic sequencingReticular nucleus-specific changes in alpha3 subunit protein at GABA synapses in genetically epilepsy-prone rats.REORGANIZATION OF BARREL CIRCUITS LEADS TO THALAMICALLY-EVOKED CORTICAL EPILEPTIFORM ACTIVITY.Mutation Screening of the γ-Aminobutyric Acid Type-A Receptor Subunit γ2 Gene in Korean Patients with Childhood Absence Epilepsy.Early postnatal switch in GABAA receptor α-subunits in the reticular thalamic nucleusMultiple molecular mechanisms for a single GABAA mutation in epilepsy.Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures.GABA(A) receptors in normal development and seizures: friends or foes?Mutations in GABAA receptor subunits associated with genetic epilepsies."Electro-clinical syndromes" with onset in paediatric age: the highlights of the clinical-EEG, genetic and therapeutic advances.Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice.Phenotypic analysis of 303 multiplex families with common epilepsies.Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.Instant Integrated Ultradeep Quantitative-structural Membrane Proteomics Discovered Post-translational Modification Signatures for Human Cys-loop Receptor Subunit Bias.Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.A Caenorhabditis elegans assay of seizure-like activity optimised for identifying antiepileptic drugs and their mechanisms of action
P2860
Q30480652-8D97260F-DE73-4255-BF83-EDA3096A6DAFQ30487718-B59446A8-A9D0-49E2-866C-2360DF309D51Q33912426-52DC1CE6-E568-441E-9599-052199E25CB5Q34019222-D9B0C94F-1DAF-4F80-8F86-7ED4E741E38FQ34315858-0AD77E2E-BCE2-46F0-895A-182FD5106195Q34559798-412B340C-B25A-40B6-8AF9-F16E7DBEBED3Q35148408-9ACA1F0E-529D-4B7B-A16D-DA699A921461Q35886280-33C42458-91E8-4E60-8743-2F6132DD98D7Q36341732-FB491ED6-066D-4D29-B32B-1C0CEEFB3043Q36518581-52D604F2-BEE8-4491-8AB4-2F2B59DDF854Q36729857-2B91E40F-FF1E-48E2-98C6-D43A034DEB33Q36841480-157190E8-9650-41F4-8D30-C5463F6A97BEQ36877182-D3F58076-41F2-4EA9-8AE4-9E8749CC5819Q37104140-8B8EDF09-4BA2-4C4A-B739-5D03F2391D01Q37716303-125C3248-05DB-43A5-8DC6-EC258EBC231DQ37969852-BF95A94A-EC61-4965-9E71-6709C697CFB1Q40056976-4DE68C84-34DD-44E8-BBCC-4524222A84A0Q42689976-E625B4BF-03C9-4A06-875E-8BAA7A1FA839Q42906676-21E05767-84EA-45B8-96AB-862647432A07Q46506229-ECF29348-C1DB-4003-AAF3-3E4973A70615Q48320137-76103FA9-25D5-4A9A-8850-2C4001FCB64FQ58702262-060766B8-4319-41CD-8DF1-6A623FC4BFD8
P2860
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@ast
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@en
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@nl
type
label
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@ast
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@en
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@nl
prefLabel
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@ast
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@en
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@nl
P2093
P1433
P1476
Childhood absence epilepsy and ...... th a GABA(A) receptor mutation
@en
P2093
Ingrid E Scheffer
John C Mulley
Louise A Harkin
Robyn H Wallace
Samuel F Berkovic
P304
P407
P577
2003-01-01T00:00:00Z