sameAs
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyAutosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 geneA Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardationA missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyAutosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsyA novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsyMutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsyAn insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsyMutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptorsK-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsyLocalization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Neuronal nicotinic acetylcholine receptors: their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy.Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.Autosomal dominant nocturnal frontal lobe epilepsy.Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review.Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy.Autosomal dominant nocturnal frontal lobe epilepsy--a critical overview.Mutational analysis of CHRNB2, CHRNA2 and CHRNA4 genes in Chinese population with autosomal dominant nocturnal frontal lobe epilepsyMutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity α4β2, and Increases α5α4β2, Nicotinic Receptor Surface ExpressionRecent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)".The multifaceted role of inhibition in epilepsy: seizure-genesis through excessive GABAergic inhibition in autosomal dominant nocturnal frontal lobe epilepsy.The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.Calcium and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE).Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsyMulti-electrode array study of neuronal cultures expressing nicotinic β2-V287L subunits, linked to autosomal dominant nocturnal frontal lobe epilepsy. An in vitro model of spontaneous epilepsy.Is too much inhibition to blame in autosomal dominant nocturnal frontal lobe epilepsy?Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.Neuropsychological function in patients with a single gene mutation associated with autosomal dominant nocturnal frontal lobe epilepsy.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.Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families.Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability.Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations.Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy.Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy.Hippocampal sclerosis worsens autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) phenotype related to CHRNB2 mutation.
P921
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P921
description
Krankheit
@de
crises d'épilepsies en séries ...... èrement stéréotypées et brèves
@fr
frontal lobe epilepsy that is ...... inetic or tonic manifestations
@en
rara forma epilessia parziale ...... iche violente durante il sonno
@it
مرض يصيب الإنسان
@ar
name
Autosomal dominant nocturnal frontal lobe epilepsy
@en
Nocna padaczka czołowa
@pl
epilessia autosomica dominante notturna del lobo frontale
@it
Épilepsie frontale à crises nocturnes
@fr
type
label
Autosomal dominant nocturnal frontal lobe epilepsy
@en
Nocna padaczka czołowa
@pl
epilessia autosomica dominante notturna del lobo frontale
@it
Épilepsie frontale à crises nocturnes
@fr
altLabel
ENFL
@en
Epilepsie frontale a crises nocturnes
@fr
autosomal dominant nocturnal frontal lobe epilepsy
@en
épilepsie frontale à crises nocturnes autosomique dominante
@fr
prefLabel
Autosomal dominant nocturnal frontal lobe epilepsy
@en
Nocna padaczka czołowa
@pl
epilessia autosomica dominante notturna del lobo frontale
@it
Épilepsie frontale à crises nocturnes
@fr
P279
P2888
P2581
P6366
P1550
P2293
P2581
P4317
P492
P6366
2777278885
2911222735
P699
DOID:0060681
P7464
autosomal-dominant-nocturnal-frontal-lobe-epilepsy