Associated Papers
Algorithmic assessment reveals functional implications of GABRD gene variants linked to idiopathic generalized epilepsy.
Arslan A
The International Journal of Neuroscience, 2025
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.
Absalom NL et al.
Journal of Neurochemistry, 2024
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.
Oliver KL et al.
Ebiomedicine, 2024
Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.
Gilsoul M et al.
Frontiers in Cellular Neuroscience, 2019
The genetics and molecular biology of fever-associated seizures or epilepsy.
Deng H et al.
Expert Reviews in Molecular Medicine, 2018
Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation.
Monies D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Genetic epilepsy with febrile seizures plus: Refining the spectrum.
Zhang YH et al.
Neurology, 2017
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
1p36 deletion syndrome: an update.
Jordan VK et al.
The Application of Clinical Genetics, 2015
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL et al.
Epilepsia, 2012
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
Mutations in GABAA receptor subunits associated with genetic epilepsies.
Macdonald RL et al.
The Journal of Physiology, 2010
Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies.
Kang JQ et al.
Trends in Molecular Medicine, 2009
The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.
Dibbens LM et al.
Neuroscience Letters, 2009
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Chloride channelopathies.
Planells-Cases R et al.
Biochimica Et Biophysica Acta, 2009
Mechanisms of human inherited epilepsies.
Reid CA et al.
Progress in Neurobiology, 2009
Genetic etiology of new forms of familial epilepsy.
Wang X et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2008
A polygenic heterogeneity model for common epilepsies with complex genetics.
Dibbens LM et al.
Genes, Brain, and Behavior, 2007
Channelopathies in idiopathic epilepsy.
Heron SE et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Molecular targets for antiepileptic drug development.
Meldrum BS et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Role of genetics in the diagnosis and treatment of epilepsy.
Ferraro TN et al.
Expert Review of Neurotherapeutics, 2006
Genes and loci involved in febrile seizures and related epilepsy syndromes.
Audenaert D et al.
Human Mutation, 2006
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.
Ma S et al.
Neuroscience Letters, 2006
Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors.
Feng HJ et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Susceptibility genes for complex epilepsy.
Mulley JC et al.
Human Molecular Genetics, 2005
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J et al.
Human Molecular Genetics, 2005
Sacred disease secrets revealed: the genetics of human epilepsy.
Turnbull J et al.
Human Molecular Genetics, 2005
Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy.
Lenzen KP et al.
Epilepsy Research, 2005
Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS+).
Scheffer IE et al.
Epilepsia, 2005
GABA(A) receptor epilepsy mutations.
Macdonald RL et al.
Biochemical Pharmacology, 2004
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
Dibbens LM et al.
Human Molecular Genetics, 2004
Molecular pathology of genetic epilepsies associated with GABAA receptor subunit mutations.
Macdonald RL et al.
Epilepsy Currents, 0