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
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
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
Can rodent models elucidate the pathomechanisms of genetic epilepsy?
Okada M
British Journal of Pharmacology, 2022
Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.
Arenas-Cabrera C et al.
Journal of Central Nervous System Disease, 2022
Nicotine Patch Improved Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Nguyen SM et al.
Pediatric Neurology, 2021
Age-Dependent and Sleep/Seizure-Induced Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Fukuyama K et al.
International Journal of Molecular Sciences, 2020
Pathomechanism of nocturnal paroxysmal dystonia in autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.
Fukuyama K et al.
Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2020
Upregulated and Hyperactivated Thalamic Connexin 43 Plays Important Roles in Pathomechanisms of Cognitive Impairment and Seizure of Autosomal Dominant Sleep-Related Hypermotor Epilepsy with S284L-Mutant α4 Subunit of Nicotinic ACh Receptor.
Fukuyama K et al.
Pharmaceuticals (basel, Switzerland), 2020
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
Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.
Lossius K et al.
Epilepsy & Behavior : E&b, 2020
Upregulated Connexin 43 Induced by Loss-of-Functional S284L-Mutant α4 Subunit of Nicotinic ACh Receptor Contributes to Pathomechanisms of Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Fukuyama K et al.
Pharmaceuticals (basel, Switzerland), 2020
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
Jiang YL et al.
Seizure, 2018
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
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
A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4+ T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Rozycka A et al.
Folia Neuropathologica, 2013
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.
Steinlein OK et al.
Seizure, 2012
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
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.
Lee CC et al.
Journal of Clinical Laboratory Analysis, 2007
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".
di Corcia G et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2005
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.
Chou IC et al.
Epilepsia, 2003
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.
Rozycka A et al.
Epilepsia, 2003
Genetic abnormalities underlying familial epilepsy syndromes.
Hirose S et al.
Brain & Development, 2002
Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.
Matsushima N et al.
Epilepsy Research, 2002
Molecular genetics of human familial epilepsy syndromes.
Hirose S et al.
Epilepsia, 2002