Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA4
Variant:p.V287L
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CHRNA4

NM_000744.7:p.V287L

Associated Papers

Emerging Role of Tripartite Synaptic Transmission in the Pathomechanism of Autosomal-Dominant Sleep-Related Hypermotor Epilepsy.

Oka T et al.

International Journal of Molecular Sciences, 2025

Nicotinic acetylcholine receptors and epilepsy.

Becchetti A et al.

Pharmacological Research, 2023

Can rodent models elucidate the pathomechanisms of genetic epilepsy?

Okada M

British Journal of Pharmacology, 2022

Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Fukuyama K et al.

British Journal of Pharmacology, 2020

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

Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.

Becchetti A

Isrn Biochemistry, 2012

The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy.

Liu H et al.

Epilepsy Research, 2011

Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

Rozycka A et al.

Epilepsia, 2003

Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations.

Magnusson A et al.

Psychiatric Genetics, 2003

Epilepsy and ionic channels.

Roll P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2002

Genetic abnormalities underlying familial epilepsy syndromes.

Hirose S et al.

Brain & Development, 2002

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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."