Epilepsy genetics: current knowledge, applications, and future directions
The rapid pace of disease gene discovery has resulted in tremendous advances in the field
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …
of epilepsy genetics. Clinical testing with comprehensive gene panels, exomes, and …
[HTML][HTML] Dravet syndrome: an overview
Dravet syndrome (DS), also known as severe myoclonic epilepsy of infancy (SMEI), is one of
the rare early childhood intractable epileptic encephalopathies associated with pleomorphic …
the rare early childhood intractable epileptic encephalopathies associated with pleomorphic …
Cryo-EM structure of the human α1β3γ2 GABAA receptor in a lipid bilayer
D Laverty, R Desai, T Uchański, S Masiulis, WJ Stec… - Nature, 2019 - nature.com
Type A γ-aminobutyric acid (GABAA) receptors are pentameric ligand-gated ion channels
and the main drivers of fast inhibitory neurotransmission in the vertebrate nervous system …
and the main drivers of fast inhibitory neurotransmission in the vertebrate nervous system …
A structural look at GABAA receptor mutations linked to epilepsy syndromes
CC Hernandez, RL Macdonald - Brain research, 2019 - Elsevier
Understanding the genetic variation in GABA A receptor subunit genes (GABRs), GABRA1-
6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the …
6, GABRB1-3, GABRG1-3 and GABRD, in individuals affected by epilepsy may improve the …
Spectrum of GABAA receptor variants in epilepsy
Genetic studies have revealed a crucial role of the GABAergic system in the underlying
pathogenesis of various forms of common and rare epilepsies. Our understanding of …
pathogenesis of various forms of common and rare epilepsies. Our understanding of …
A missense mutation in SLC6A1 associated with Lennox-Gastaut syndrome impairs GABA transporter 1 protein trafficking and function
K Cai, J Wang, J Eissman, J Wang, G Nwosu… - Experimental …, 2019 - Elsevier
Abstract Background Mutations in SLC6A1 have been associated mainly with myoclonic
atonic epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in …
atonic epilepsy (MAE) and intellectual disability. We identified a novel missense mutation in …
Clinical spectrum of STX1B-related epileptic disorders
Objective The aim of this study was to expand the spectrum of epilepsy syndromes related to
STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype …
STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype …
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies
CC Hernandez, W XiangWei, N Hu, D Shen, W Shen… - Brain, 2019 - academic.oup.com
We performed next generation sequencing on 1696 patients with epilepsy and intellectual
disability using a gene panel with 480 epilepsy-related genes including all GABAA receptor …
disability using a gene panel with 480 epilepsy-related genes including all GABAA receptor …
Pathogenic Variants in STXBP1 and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
F Cogliati, V Giorgini, M Masciadri, MT Bonati… - International Journal of …, 2019 - mdpi.com
Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls.
Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia …
Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia …
Generalized epilepsies
R Guerrini, C Marini, C Barba - Handbook of clinical neurology, 2019 - Elsevier
Idiopathic generalized epilepsies (IGE) are characterized by normal background EEG
activity and generalized interictal spike-and-wave discharges in the absence of any …
activity and generalized interictal spike-and-wave discharges in the absence of any …