Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay.
Wang S et al.
Psychiatric Genetics, 2023
Nicotinic acetylcholine receptors and epilepsy.
Becchetti A et al.
Pharmacological Research, 2023
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
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
Generalized epilepsy in a family with basal ganglia calcifications and mutations in SLC20A2 and CHRNB2.
Fjaer R et al.
European Journal of Medical Genetics, 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
The molecular biology of genetic-based epilepsies.
Deng H et al.
Molecular Neurobiology, 2014
Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation.
Labate A et al.
European Journal of Neurology, 2013
Mice expressing the ADNFLE valine 287 leucine mutation of the Β2 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function.
O'Neill HC et al.
Pharmacology, Biochemistry, and Behavior, 2013
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
Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.
Xu J et al.
Molecular Psychiatry, 2011
Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.
Steinlein OK
Expert Review of Neurotherapeutics, 2010
Advances on the genetics of mendelian idiopathic epilepsies.
Baulac S et al.
Neurologic Clinics, 2009
Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.
Manfredi I et al.
Human Molecular Genetics, 2009
CHRNA2 mutations are rare in the NFLE population: evaluation of a large cohort of Italian patients.
Combi R et al.
Sleep Medicine, 2009
The Hitchhiker's guide to the child neurologist's genetic evaluation of epilepsy.
Grill MF et al.
Seminars in Pediatric Neurology, 2008
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.
Marini C et al.
Biochemical Pharmacology, 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
Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.
Combi R et al.
Journal of Neurology, 2004
Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy.
Combi R et al.
Brain Research Bulletin, 2004
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy.
Leniger T et al.
Epilepsia, 2003
Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.
McLellan A et al.
Epilepsia, 2003
Nicotinic receptors in circuit excitability and epilepsy.
Raggenbass M et al.
Journal of Neurobiology, 2002
Epilepsy and ionic channels.
Roll P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2002
Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy.
Duga S et al.
Epilepsia, 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
Genetic and functional analysis of single nucleotide polymorphisms in the beta2-neuronal nicotinic acetylcholine receptor gene (CHRNB2).
Lueders KK et al.
Nicotine & Tobacco Research : Official Journal of the Society for Research on Nicotine and Tobacco, 2002
Channelopathies can cause epilepsy in man.
Steinlein OK
European Journal of Pain (london, England), 2002
Molecular genetics of human familial epilepsy syndromes.
Hirose S et al.
Epilepsia, 2002
Ion channel variation causes epilepsies.
Moulard B et al.
Brain Research. Brain Research Reviews, 2001
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
Phillips HA et al.
American Journal of Human Genetics, 2001
Genes and mutations in idiopathic epilepsy.
Steinlein OK
American Journal of Medical Genetics, 2001
Ion channels and epilepsy.
Lerche H et al.
American Journal of Medical Genetics, 2001