[HTML][HTML] Genetic variations in GABA metabolism and epilepsy

Y Feng, ZH Wei, C Liu, GY Li, XZ Qiao, YJ Gan… - Seizure, 2022 - Elsevier
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal
excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory …

GABA (A) Receptor Subunit (γ2, δ, β1-3) Variants in Genetic Epilepsy: A Comprehensive Summary of 206 Clinical Cases

X Zhu, P Li - Journal of Child Neurology, 2024 - journals.sagepub.com
Epilepsy is identified in individuals who experienced 2 or more unprovoked seizures
occurring over 24 hours apart, which can have a profound impact on a person's …

GABRB3-related epilepsy: novel variants, clinical features and therapeutic implications

Y Yang, Q Zeng, M Cheng, X Niu, W Xiangwei… - Journal of …, 2022 - Springer
Objective This study aimed to comprehensively examine the genetic and phenotypic aspects
of GABRB3-related epilepsy and to explore the potential prospects of personalized …

[HTML][HTML] Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

KM Johannesen, S Iqbal, M Guazzi, NA Mohammadi… - Genetics in …, 2022 - Elsevier
Purpose Pathogenic variants in GABRB3 have been associated with a spectrum of
phenotypes from severe developmental disorders and epileptic encephalopathies to milder …

Genetic myoclonus

S van der Veen - 2024 - research.rug.nl
Myoclonus are brief, involuntary jerks that can occur continuously in the whole body. The
jerks are caused by overactive nerves and have many different causes. There are many …

[PDF][PDF] Genetic Variations of GABA Metabolism Pathway and Epilepsy

Y Feng, ZH Wei, XZ Qiao, YC Deng - Ann Genet Genom, 2021 - medtextpublications.com
Epilepsy is a kind of paroxysmal brain dysfunction disease, which is the result of the
imbalance between excitation and inhibition of brain neurons. Gamma-Aminobutyric acid is …