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 whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 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
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
Utility of genetic testing in the pre-surgical evaluation of children with drug-resistant epilepsy.
Alsubhi S et al.
Journal of Neurology, 2024
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
Genetic Variant in Nicotinic Receptor α4-Subunit Causes Sleep-Related Hyperkinetic Epilepsy via Increased Channel Opening.
Mazzaferro S et al.
International Journal of Molecular Sciences, 2022
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.
Gozzelino L et al.
Brain : a Journal of Neurology, 2022
Can rodent models elucidate the pathomechanisms of genetic epilepsy?
Okada M
British Journal of Pharmacology, 2022
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2021
Nicotine Patch Improved Autosomal Dominant Sleep-Related Hypermotor Epilepsy.
Nguyen SM et al.
Pediatric Neurology, 2021
Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.
Fox J et al.
Journal of Child Neurology, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
A novel KCNT1 mutation in a Chinese family with severe autosomal-dominant nocturnal frontal lobe epilepsy.
Xie N et al.
Translational Neuroscience, 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
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
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
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
Lack of Association of Generic Brittle Status with Genetics and Physiologic Measures in Patients with Epilepsy.
Das S et al.
Pharmaceutical Research, 2020
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T et al.
Annals of Clinical and Translational Neurology, 2019
CHRNA4 variant causes paroxysmal kinesigenic dyskinesia and genetic epilepsy with febrile seizures plus?
Jiang YL et al.
Seizure, 2018
Molecular Genetic Characterization of Patients With Focal Epilepsy Using a Customized Targeted Resequencing Gene Panel.
Tsai MH et al.
Frontiers in Neurology, 2018
Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy.
Chen ZH et al.
Oncotarget, 2017
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
Spontaneous epileptic seizures in transgenic rats harboring a human ADNFLE missense mutation in the β2-subunit of the nicotinic acetylcholine receptor.
Shiba Y et al.
Neuroscience Research, 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
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 novel prophylactic effect of furosemide treatment on autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE).
Yamada J et al.
Epilepsy Research, 2013
De novo 15q13.3 microdeletion with cryptogenic West syndrome.
Lacaze E et al.
American Journal of Medical Genetics. Part A, 2013
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
Genetics of idiopathic epilepsies.
Nabbout R et al.
Handbook of Clinical Neurology, 2013
A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.
Sansoni V et al.
Journal of Sleep Research, 2012
Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.
Becchetti A
Isrn Biochemistry, 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
[Generation of epilepsy animal model bearing a genetic abnormality identified in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) of humans].
Okada M
Nihon Shinkei Seishin Yakurigaku Zasshi = Japanese Journal of Psychopharmacology, 2010
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy.
Rozycka A et al.
Seizure, 2009
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
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
Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunits.
Lee CC et al.
Journal of Clinical Laboratory Analysis, 2007
Role of genetics in the diagnosis and treatment of epilepsy.
Ferraro TN et al.
Expert Review of Neurotherapeutics, 2006
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