Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
about
Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy.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 sequencingGeneralized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Genetic mechanisms that underlie epilepsy.Reticular nucleus-specific changes in alpha3 subunit protein at GABA synapses in genetically epilepsy-prone rats.Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).Early postnatal switch in GABAA receptor α-subunits in the reticular thalamic nucleusEpileptogenic channelopathies: experimental models of human pathologies.Neurochemical and behavioral features in genetic absence epilepsy and in acutely induced absence seizures.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.The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.An asymmetric contribution to gamma-aminobutyric type A receptor function of a conserved lysine within TM2-3 of alpha1, beta2, and gamma2 subunits.Instant Integrated Ultradeep Quantitative-structural Membrane Proteomics Discovered Post-translational Modification Signatures for Human Cys-loop Receptor Subunit Bias.Genetic architecture of idiopathic generalized epilepsy: clinical genetic analysis of 55 multiplex families.Overexpressing wild-type γ2 subunits rescued the seizure phenotype in Gabrg2+/Q390X Dravet syndrome mice.Nucleus-specific abnormalities of GABAergic synaptic transmission in a genetic model of absence seizures.Ring chromosome 14 mosaicism: an unusual case associated with developmental delay and epilepsy, characterized by genome array-CGH.Idiopathic Generalized Epilepsies Recognized by the International League Against Epilepsy
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P2860
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
description
im Januar 2003 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в січні 2003
@uk
name
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@en
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@nl
type
label
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@en
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@nl
prefLabel
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@en
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@nl
P2093
P2860
P356
P1433
P1476
Childhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
@en
P2093
I. E. Scheffer
J. C. Mulley
L. A. Harkin
R. H. Wallace
S. F. Berkovic
P2860
P304
P356
10.1093/BRAIN/AWG018
P407
P577
2003-01-01T00:00:00Z