Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizuresA missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunctionNew mutation c.374C>T and a putative disease-associated haplotype within SCN1B gene in Tunisian families with febrile seizures.Evaluation of candidate genes from orphan FEB and GEFS+ loci by analysis of human brain gene expression atlasesEpilepsy genes: the link between molecular dysfunction and pathophysiology.Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizuresGenetic variants in the IMPA2 gene do not confer increased risk of febrile seizures in Caucasian patients.Genetic identifiers of epilepsy.A new locus on chromosome 22q13.31 linked to recessive genetic epilepsy with febrile seizures plus (GEFS+) in a Tunisian consanguineous familyGenetics of inherited human epilepsiesFebrile seizures: an updateGeneralized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.Genetic epidemiology of epilepsy or what do we tell families?Lack of association between TNF-α gene polymorphisms at position -308 A, -850T and risk of simple febrile convulsion in pediatric patients.Genetic and environmental factors in complex neurodevelopmental disorders.Four new families with autosomal dominant partial epilepsy with auditory features: clinical description and linkage to chromosome 10q24.Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures.Molecular genetics of human familial epilepsy syndromes.Association analysis of gamma 2 subunit of gamma- aminobutyric acid type A receptor polymorphisms with febrile seizures.ADGRV1 is implicated in myoclonic epilepsy.Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsyChildhood absence epilepsy and febrile seizures: a family with a GABAA receptor mutation
P2860
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P2860
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
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2000 nî lūn-bûn
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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած
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Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
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Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
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label
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
@ast
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
@en
prefLabel
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
@ast
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
@en
P2093
P356
P1476
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
@en
P2093
Hamaguchi H
Hasegawa M
Horigome Y
P356
10.1093/HMG/9.1.87
P577
2000-01-01T00:00:00Z