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
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
Nicotine: A Targeted Therapy for Epilepsy Due to nAChR Gene Variants.
Fox J et al.
Journal of Child Neurology, 2021
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
28717674 (PubMed )
Supplement: supp_3.4.e163_Table_e-1.xlsx › Strong_segregation_support
Genetic models of focal epilepsies.
Boillot M et al.
Journal of Neuroscience Methods, 2016
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
Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.
Steinlein OK
Expert Review of Neurotherapeutics, 2010
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
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