Associated Papers
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
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.
Weltzin MM et al.
Neuropharmacology, 2016
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 case of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) coexisting with pervasive developmental disorder harboring SCN1A mutation in addition to CHRNB2 mutation.
Sone D et al.
Epilepsy & Behavior : E&b, 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
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
Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor.
Cho YW et al.
Epilepsy & Behavior : E&b, 2008
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy.
Marini C et al.
Biochemical Pharmacology, 2007
Genetic disorders caused by mutated acetylcholine receptors.
Steinlein OK
Life Sciences, 2007
Channelopathies in idiopathic epilepsy.
Heron SE et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2007
Role of genetics in the diagnosis and treatment of epilepsy.
Ferraro TN et al.
Expert Review of Neurotherapeutics, 2006
The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits.
Bertrand D et al.
Neurobiology of Disease, 2005