A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
about
Manipulating neuronal circuits with endogenous and recombinant cell-surface tethered modulatorsCloning, characterization, and chromosomal location of a novel human K+-Cl- cotransporterCHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyBenign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneityA second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia.CNV and nervous system diseases--what's new?Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine responseNeurotransmitter receptors in the life and death of oligodendrocytesFamilial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16Molecular targets for antiepileptic drug developmentAdvances of Molecular Imaging in EpilepsyDefinition and diagnostic criteria of sleep-related hypermotor epilepsyGenetic neurological channelopathies: molecular genetics and clinical phenotypes.Advancing epilepsy genetics in the genomic eraThe concept of allosteric interaction and its consequences for the chemistry of the brainGenetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental modelsAnterior Cingulate epilepsy: mechanisms and modulationParoxysmal hypnogenic dyskinesia is associated with mutations in the PRRT2 gene.Intersubunit Bridge Formation Governs Agonist Efficacy at Nicotinic Acetylcholine 4 2 Receptors: UNIQUE ROLE OF HALOGEN BONDING REVEALEDTargeting α4β2 nicotinic acetylcholine receptors in central nervous system disorders: perspectives on positive allosteric modulation as a therapeutic approach.Epileptic syndromes: From clinic to geneticA reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsionsA locus for febrile seizures (FEB3) maps to chromosome 2q23-24The chaperone protein 14-3-3eta interacts with the nicotinic acetylcholine receptor alpha 4 subunit. Evidence for a dynamic role in subunit stabilizationIon channels and epilepsySevere myoclonic epilepsy of infancy: extended spectrum of GEFS+?Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsyHow mutations in the nAChRs can cause ADNFLE epilepsyAn insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsyPartial cosegregation of familial hemiplegic migraine and a benign familial infantile epileptic syndromeAn amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kineticsBiallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset EncephalopathyLoss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampusGenetics and epilepsy.The genetic components of alcohol and nicotine co-addiction: from genes to behaviorNeurological channelopathies.Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.
P2860
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P2860
A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
description
1995 nî lūn-bûn
@nan
1995 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
1995年の論文
@ja
1995年論文
@yue
1995年論文
@zh-hant
1995年論文
@zh-hk
1995年論文
@zh-mo
1995年論文
@zh-tw
1995年论文
@wuu
name
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@ast
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en-gb
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@nl
type
label
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@ast
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en-gb
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@nl
prefLabel
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@ast
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en-gb
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
A missense mutation in the neu ...... octurnal frontal lobe epilepsy
@en
P2093
Berkovic SF
Phillips HA
Propping P
Steinlein OK
Sutherland GR
Wallace RH
P2860
P2888
P304
P3181
P356
10.1038/NG1095-201
P407
P577
1995-10-01T00:00:00Z
P6179
1026685136