Associated Papers
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
GABRA1 and GABRA6 gene mutations in idiopathic generalized epilepsy patients.
Riaz M et al.
Seizure, 2021
The molecular landscape of ETMR at diagnosis and relapse.
Lambo S et al.
Nature, 2019
A proposed nosology of inborn errors of metabolism.
Ferreira CR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Q et al.
Journal of Human Genetics, 2018
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.
Wei F et al.
Neuroscience Bulletin, 2017
De novo GABRG2 mutations associated with epileptic encephalopathies.
Shen D et al.
Brain : a Journal of Neurology, 2017
Genetic susceptibility in Juvenile Myoclonic Epilepsy: Systematic review of genetic association studies.
Santos BPD et al.
Plos One, 2017
Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.
Hernandez CC et al.
Plos One, 2016
A novel variant in GABRB2 associated with intellectual disability and epilepsy.
Srivastava S et al.
American Journal of Medical Genetics. Part A, 2014
Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy.
Prasad DK et al.
Epilepsy Research, 2014
Three epilepsy-associated GABRG2 missense mutations at the γ+/β- interface disrupt GABAA receptor assembly and trafficking by similar mechanisms but to different extents.
Huang X et al.
Neurobiology of Disease, 2014
Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.
Miller AR et al.
Genes, Brain, and Behavior, 2014
The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters 6β22 and 6β2 GABA(A) receptor channel gating and expression.
Hernandez CC et al.
The Journal of Physiology, 2011
Mutations affecting GABAergic signaling in seizures and epilepsy.
Galanopoulou AS
Pflugers Archiv : European Journal of Physiology, 2010
The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.
Dibbens LM et al.
Neuroscience Letters, 2009
Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.
Hernandez CC et al.
Eneuro, 0