Varaico: Literature-Extracted Genetic Variants

Gene:CHRNA2
Variant:p.I279N
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CHRNA2

NM_000742.4:p.I279N

Associated Papers

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

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Becchetti A et al.

Brain Sciences, 2020

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Sanchis-Juan A et al.

Molecular Genetics & Genomic Medicine, 2020

CHRNA2 and Nocturnal Frontal Lobe Epilepsy: Identification and Characterization of a Novel Loss of Function Mutation.

Villa C et al.

Frontiers in Molecular Neuroscience, 2019

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

Wei F et al.

Neuroscience Bulletin, 2017

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Bennett CA et al.

Neurology. Genetics, 2017

28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support

Genetic models of focal epilepsies.

Boillot M et al.

Journal of Neuroscience Methods, 2016

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Conti V et al.

Neurology, 2015

The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.

Becchetti A et al.

Frontiers in Physiology, 2015

Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsy.

Chen Z et al.

International Journal of Clinical and Experimental Medicine, 2015

Significant associations of CHRNA2 and CHRNA6 with nicotine dependence in European American and African American populations.

Wang S et al.

Human Genetics, 2014

Nocturnal frontal lobe epilepsy and the acetylcholine receptor.

Ferini-Strambi L et al.

The Neurologist, 2012

Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

Steinlein OK et al.

Seizure, 2012

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

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

Steinlein OK

Expert Review of Neurotherapeutics, 2010

Nicotinic receptor channelopathies and epilepsy.

Steinlein OK et al.

Pflugers Archiv : European Journal of Physiology, 2010

Advances on the genetics of mendelian idiopathic epilepsies.

Baulac S et al.

Neurologic Clinics, 2009

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

Hoda JC et al.

Febs Letters, 2009

Neuronal nicotinic acetylcholine receptors: from the genetic analysis to neurological diseases.

Steinlein OK et al.

Biochemical Pharmacology, 2008

Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore.

Hoda JC et al.

Molecular Pharmacology, 2008

The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.

Marini C et al.

Biochemical Pharmacology, 2007

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear.

Aridon P et al.

American Journal of Human Genetics, 2006

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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."