Associated Papers
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
Clocking Epilepsies: A Chronomodulated Strategy-Based Therapy for Rhythmic Seizures.
Sun S et al.
International Journal of Molecular Sciences, 2023
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
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
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
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
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.
Steinlein OK et al.
Seizure, 2012
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
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
Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
Díaz-Otero F et al.
Epilepsia, 2008
Human disorders caused by the disruption of the regulation of excitatory neurotransmission.
Steinlein OK
Results and Problems in Cell Differentiation, 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
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
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
How mutations in the nAChRs can cause ADNFLE epilepsy.
Bertrand D et al.
Epilepsia, 2002
Role of neuronal nicotinic receptors in the transmission and processing of information in neurons of the central nervous system.
Tribollet E et al.
Pharmacology, Biochemistry, and Behavior, 2001
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