Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.R336H
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CHRNA4

NM_000744.7:p.R336H

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

Nicotinic acetylcholine receptors and epilepsy.

Becchetti A et al.

Pharmacological Research, 2023

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations

Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.

Weltzin MM et al.

Plos One, 2021

Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine.

Neng X et al.

Molecular Genetics & Genomic Medicine, 2020

CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?

Jiang YL et al.

Seizure, 2018

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.

Weltzin MM et al.

Neuropharmacology, 2016

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

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

Steinlein OK

Expert Review of Neurotherapeutics, 2010

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."