A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
about
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsyFive ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine responseBiomarkers of postoperative delirium and cognitive dysfunctionEpileptic syndromes: From clinic to geneticA new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsyThe chaperone protein 14-3-3eta interacts with the nicotinic acetylcholine receptor alpha 4 subunit. Evidence for a dynamic role in subunit stabilizationIon channels and epilepsyMutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsyA novel mutation ofKCNQ3 (c.925T?C) in a Japanese family with benign familial neonatal convulsionsAltered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the β2 nicotinic receptor.Nicotinic receptor channelopathies and epilepsy.Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.A common haplotype of the nicotine acetylcholine receptor alpha 4 subunit gene is associated with vulnerability to nicotine addiction in men.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Genes and mutations in idiopathic epilepsy.Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence.Channelopathies can cause epilepsy in man.The neuronal channelopathies.Genetic identifiers of epilepsy.Clues to the genetic influences of drug responsiveness in epilepsy.Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.Genetics of inherited human epilepsiesPearls & Oysters: A case of refractory nocturnal seizures: Putting out fires without smokeMolecular basis of Mendelian idiopathic epilepsies.Genetics of idiopathic epilepsies.Genetic focal epilepsies: state of the art and paths to the future.Risk factors in sudden death in epilepsy (SUDEP): the quest for mechanisms.Genetic variations and associated pathophysiology in the management of epilepsy.Animal models for autosomal dominant frontal lobe epilepsy: on the origin of seizures.The molecular biology of genetic-based epilepsies.Nicotinic acetylcholine receptors in human genetic disease.The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.Neuronal nicotinic receptors in sleep-related epilepsy: studies in integrative biology.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.The role of genetics and ethnicity in epilepsy management.Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.Mice expressing the ADNFLE valine 287 leucine mutation of the Β2 nicotinic acetylcholine receptor subunit display increased sensitivity to acute nicotine administration and altered presynaptic nicotinic receptor function.Molecular genetics of human familial epilepsy syndromes.Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions.Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.
P2860
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P2860
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
description
1999 nî lūn-bûn
@nan
1999 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@ast
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@en
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@nl
type
label
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@ast
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@en
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@nl
prefLabel
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@ast
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@en
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@nl
P2093
P356
P1433
P1476
A novel mutation of CHRNA4 res ...... octurnal frontal lobe epilepsy
@en
P2093
A Mitsudome
H Akiyoshi
K Kobayashi
P304
P356
10.1212/WNL.53.8.1749
P407
P577
1999-11-10T00:00:00Z