[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 …
excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory …
GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants
NL Absalom, SXN Lin, VWY Liao… - Journal of …, 2023 - Wiley Online Library
Normal brain function requires a tightly regulated balance between excitatory and inhibitory
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …
neurotransmissions. γ‐Aminobutyric acid type A (GABAA) receptors represent the major …
The genetic landscape of epilepsy of infancy with migrating focal seizures
R Burgess, S Wang, A McTague, KE Boysen… - Annals of …, 2019 - Wiley Online Library
Objective Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe
developmental and epileptic encephalopathies. We delineate the genetic causes and …
developmental and epileptic encephalopathies. We delineate the genetic causes and …
Bi-allelic ADARB1 variants associated with microcephaly, intellectual disability, and seizures
TY Tan, J Sedmík, MP Fitzgerald, RS Halevy… - The American Journal of …, 2020 - cell.com
The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired
ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here …
ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here …
GABRG2 Variants Associated with Febrile Seizures
CC Hernandez, Y Shen, N Hu, W Shen, V Narayanan… - Biomolecules, 2023 - mdpi.com
Febrile seizures (FS) are the most common form of epilepsy in children between six months
and five years of age. FS is a self-limited type of fever-related seizure. However, complicated …
and five years of age. FS is a self-limited type of fever-related seizure. However, complicated …
Established and emerging GABAA receptor pharmacotherapy for epilepsy
Drugs that modulate the GABAA receptor are widely used in clinical practice for both the
long-term management of epilepsy and emergency seizure control. In addition to older …
long-term management of epilepsy and emergency seizure control. In addition to older …
Next-generation sequencing technologies and neurogenetic diseases
H Sun, XR Shen, ZB Fang, ZZ Jiang, XJ Wei, ZY Wang… - Life, 2021 - mdpi.com
Next-generation sequencing (NGS) technology has led to great advances in understanding
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …
the causes of Mendelian and complex neurological diseases. Owing to the complexity of …
Phenotypic Spectrum and Prognosis of Epilepsy Patients With GABRG2 Variants
Y Yang, X Niu, M Cheng, Q Zeng, J Deng… - Frontiers in Molecular …, 2022 - frontiersin.org
Objective This study aimed to obtain a comprehensive understanding of the genetic and
phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the …
phenotypic aspects of GABRG2-related epilepsy and its prognosis and to explore the …
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes
Background The genetic architecture of non-acquired focal epilepsies (NAFEs) becomes
increasingly unravelled using genome-wide sequencing datasets. However, it remains to be …
increasingly unravelled using genome-wide sequencing datasets. However, it remains to be …