An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
about
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyAutosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine responseA reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsionsIon channels and epilepsyHow mutations in the nAChRs can cause ADNFLE epilepsyMarine Toxins Targeting Ion ChannelsNocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of functionEmerging insights into the genesis of epilepsy.Idiopathic epilepsies with a monogenic mode of inheritance.Recent advances in the genetics of epilepsy: insights from human and animal studies.Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.Acetylcholine receptors and myasthenia.Autosomal dominant nocturnal frontal lobe epilepsy.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Ion channels and neurology.Genes and mutations in idiopathic epilepsy.Recent advances in the diagnosis and treatment of epilepsy.Channelopathies can cause epilepsy in man.Acetylcholine receptor channel structure in the resting, open, and desensitized states probed with the substituted-cysteine-accessibility methodGenetic identifiers of epilepsy.Activation and desensitization induce distinct conformational changes at the extracellular-transmembrane domain interface of the glycine receptorDesensitization of mouse nicotinic acetylcholine receptor channels. A two-gate mechanismStoichiometric analysis of the TM2 6' phenylalanine mutation on desensitization in alpha1beta2 and alpha1beta2gamma2 GABA A receptors.Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.Neuronal Nicotinic Acetylcholine Receptors and Epilepsy.Identification and preclinical testing of novel antiepileptic compounds.Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.Molecular modelling of the interactions of carbamazepine and a nicotinic receptor involved in the autosomal dominant nocturnal frontal lobe epilepsyDesensitization mechanism in prokaryotic ligand-gated ion channelConformational transitions underlying pore opening and desensitization in membrane-embedded Gloeobacter violaceus ligand-gated ion channel (GLIC)Molecular genetics of human familial epilepsy syndromes.Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response.Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine.Nocturnal frontal lobe epilepsy.Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study.Autosomal dominant nocturnal frontal lobe epilepsy: an electroclinical study of a Norwegian family with ten affected members.Polymorphism in the CHRNA4 gene is associated with rapid scene categorization performance.
P2860
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P2860
An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
description
1996 nî lūn-bûn
@nan
1996 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1996 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
name
An amino acid exchange in the ...... g its desensitization kinetics
@ast
An amino acid exchange in the ...... g its desensitization kinetics
@en
An amino acid exchange in the ...... g its desensitization kinetics
@nl
type
label
An amino acid exchange in the ...... g its desensitization kinetics
@ast
An amino acid exchange in the ...... g its desensitization kinetics
@en
An amino acid exchange in the ...... g its desensitization kinetics
@nl
prefLabel
An amino acid exchange in the ...... g its desensitization kinetics
@ast
An amino acid exchange in the ...... g its desensitization kinetics
@en
An amino acid exchange in the ...... g its desensitization kinetics
@nl
P2093
P2860
P1433
P1476
An amino acid exchange in the ...... g its desensitization kinetics
@en
P2093
A Villarroel
O Steinlein
P Propping
V Witzemann
P2860
P356
10.1016/S0014-5793(96)01215-X
P407
P577
1996-11-25T00:00:00Z