Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Item
http://www.wikidata.org/entity/Q28217130
Q28189942
sameAs
Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizuresMutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)Inherited disorders of voltage-gated sodium channels.Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Genetics of idiopathic epilepsies.Sodium channel mutations in epilepsy and other neurological disorders.Sudden death in toddlers associated with developmental abnormalities of the hippocampus: a report of five cases.Haptoglobin HP2-2 genotype, alpha-thalassaemia and acute seizures in children living in a malaria-endemic area.Sodium channel SCN1A and epilepsy: mutations and mechanisms.Generalized epilepsy with febrile seizure plus (GEFS+) spectrum: Novel de novo mutation of SCN1A detected in a Malaysian patient.A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus.
P2860

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

Item
http://www.wikidata.org/entity/Q28217130
description
2002 nî lūn-bûn
@nan
2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@ast
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@en
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@nl
type
label
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@ast
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@en
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@nl
prefLabel
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@ast
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@en
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Autosomal dominant epilepsy wi ...... el alpha 1 subunit gene, SCN1A
@en
P2093
P304
P31
P356
10.1016/S0920-1211(01)00313-8
P407
P433
P478
P50
P577
P698