Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.T293I
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CHRNA4

NM_000744.7:p.T293I

Associated Papers

Clinical, molecular, physiologic, and therapeutic feature of patients with CHRNA4 and CHRNB2 deficiency: A systematic review.

Jalaiei A et al.

Journal of Neurochemistry, 2025

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.

Yang Y et al.

Frontiers in Neurology, 2024

Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.

Indurthi DC et al.

Pharmacological Research, 2019

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

Genetic models of focal epilepsies.

Boillot M et al.

Journal of Neuroscience Methods, 2016

A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy.

Wang MY et al.

Epilepsy Research, 2014

Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

Hwang SK et al.

Journal of Human Genetics, 2011

Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.

Steinlein OK

Expert Review of Neurotherapeutics, 2010

Pleiotropic functional effects of the first epilepsy-associated mutation in the human CHRNA2 gene.

Hoda JC et al.

Febs Letters, 2009

Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

Zhu G et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

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