Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
about
A 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 15q24Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16A 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 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 kineticsSeizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.Hyperkinetic seizures in children.Ion channels and the genetic contribution to epilepsy.Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21Emerging 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.Genetics of childhood epilepsyNeurological channelopathies: diagnosis and therapy in the new millennium.Autosomal dominant nocturnal frontal lobe epilepsy.Epilepsy genes: the link between molecular dysfunction and pathophysiology.Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.Mapping of a gene determining familial partial epilepsy with variable foci to chromosome 22q11-q12.Diagnosis and treatment of paroxysmal dyskinesias revisitedAltered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.Gene localization for an autosomal dominant familial periodic fever to 12p13Genes and mutations in idiopathic epilepsy.Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.Epilepsy and brain abnormalities in mice lacking the Otx1 gene.Identification of epilepsy genes in human and mouseHigh-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p.Recent advances in the diagnosis and treatment of epilepsy.Progress in the genetics of the partial epilepsies.Channelopathies can cause epilepsy in man.Familial bilateral periventricular nodular heterotopia mimics tuberous sclerosisGenetic identifiers of epilepsy.Candidate genes for idiopathic epilepsy in four dog breeds.Genetics of inherited human epilepsies
P2860
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P2860
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
description
1995 nî lūn-bûn
@nan
1995 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
1995 թվականի մայիսին 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
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@ast
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@en
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@nl
type
label
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@ast
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@en
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@nl
prefLabel
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@ast
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@en
Localization of a gene for aut ...... pilepsy to chromosome 20q 13.2
@nl
P2093
P2860
P356
P1433
P1476
Localization of a gene for aut ...... ilepsy to chromosome 20q 13.2.
@en
P2093
Berkovic SF
Hollway GE
Phillips HA
Sutherland GR
P2860
P2888
P304
P356
10.1038/NG0595-117
P407
P577
1995-05-01T00:00:00Z