Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.L290V
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CHRNA4

NM_000744.7:p.L290V

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

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

Jiang YL et al.

Seizure, 2018

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

K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy.

El Helou J et al.

Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology, 2008

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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."