Voltage-gated sodium channel β subunits and their related diseases

AA Bouza, LL Isom - Voltage-Gated Sodium Channels: Structure, Function …, 2018 - Springer
Voltage-gated sodium channels are protein complexes comprised of one pore forming α
subunit and two, non-pore forming, β subunits. The voltage-gated sodium channel β …

[PDF][PDF] Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

RJL Anney, A Avbersek, D Balding, L Baum… - The Lancet …, 2014 - hub.hku.hk
Background The epilepsies are a clinically heterogeneous group of neurological disorders.
Despite strong evidence for heritability, genome-wide association studies have had little …

Regulation of ion channels by microRNAs and the implication for epilepsy

C Gross, D Tiwari - Current neurology and neuroscience reports, 2018 - Springer
Abstract Purpose of Review The goal of this focused review is to describe recent studies
supporting a critical role of microRNAs in the regulation of ion channels and discuss the …

Variations of chromosome 2 gene expressions among patients with lung cancer or non-cancer

L Bao, Y Zhang, J Wang, H Wang, N Dong, X Su… - Cell biology and …, 2016 - Springer
Lung cancer is one of the most common malignancies worldwide. The present study aimed
to investigate specific genotypes of different subtypes or stages of lung cancer through gene …

[HTML][HTML] ABCG2, SCN1A and CYP3A5 genes polymorphism and drug-resistant epilepsy in children: A case-control study

SF Mousavi, K Hasanpour, M Nazarzadeh, A Adli… - Seizure, 2022 - Elsevier
Abstract Purpose Drug Resistant-Epilepsy is still a major challenge in pharmacotherapy of
epilepsy. Pharmacogenetic pathways are one of the most important elements that can help …

Binary architecture of the Nav1.2-β2 signaling complex

S Das, J Gilchrist, F Bosmans, F Van Petegem - Elife, 2016 - elifesciences.org
To investigate the mechanisms by which β-subunits influence Nav channel function, we
solved the crystal structure of the β2 extracellular domain at 1.35 Å. We combined these data …

[HTML][HTML] The potential implication of SCN1A and CYP3A5 genetic variants on antiepileptic drug resistance among Egyptian epileptic children

WMMA El Fotoh, MSE Habib, AA ALrefai, ZA Kasemy - Seizure, 2016 - Elsevier
Purpose Despite the advances in the pharmacological treatment of epilepsy,
pharmacoresistance still remains challenging. Understanding of the pharmacogenetic …

Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks

RA Nebel, D Zhao, E Pedrosa, J Kirschen… - PloS one, 2016 - journals.plos.org
Deletions encompassing the BP1-2 region at 15q11. 2 increase schizophrenia and epilepsy
risk, but only some carriers have either disorder. To investigate the role of CYFIP1, a gene …

Polymorphisms of the sodium voltage-gated channel, alpha subunit 1 (SCN1A -A3184G) gene among children with non-lesional epilepsy: a case-control study

E Ghazala, DA Shahin, Y Wahba - Italian Journal of Pediatrics, 2022 - Springer
Background Mutations in the neuronal sodium voltage-gated channel, alpha subunit 1
(SCN1A) gene have been associated with epilepsy. We investigated the SCN1A-A3184G …

Identifying and analyzing novel epilepsy‐related genes using random walk with restart algorithm

W Guo, DM Shang, JH Cao, K Feng… - BioMed research …, 2017 - Wiley Online Library
As a pathological condition, epilepsy is caused by abnormal neuronal discharge in brain
which will temporarily disrupt the cerebral functions. Epilepsy is a chronic disease which …