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A novel genetic locus for familial febrile seizures and epilepsy on chromosome 3q26.2–q26.33
Ist Teil von
Human genetics, 2008-11, Vol.124 (4), p.423-429
Ort / Verlag
Berlin/Heidelberg: Springer-Verlag
Erscheinungsjahr
2008
Link zum Volltext
Quelle
SpringerLink (Online service)
Beschreibungen/Notizen
Febrile seizures (FS) are common in children, and the incidence is 2–5% before the age of 5 years. A four-generation Chinese family with autosomal dominant febrile seizure and epilepsy was studied by genome-wide linkage analysis. Significant linkage was identified with markers on chromosome 3q26.2–26.33 with a maximum pairwise LOD score of >3.00. Fine mapping defined the new genetic locus within a 10.7-Mb region between markers
D3S3656
and
D3S1232
. A maximum multipoint LOD score of 5.27 was detected at marker
D3S1565
. A previously reported
CLCN
2 gene for epilepsy was excluded as the disease-causing gene in the family by mutational analysis of all exons and exon–intron boundaries of
CLCN2
and by haplotype analysis. Mutation analysis of
KCNMB2
and
KCNMB3
, which were two potassium-channel genes in this linkage region, did not reveal a disease causing mutation. Our results identified another novel locus on chromosome 3q26.2–26.33, and future studies of the candidate genes at the locus will identify a new gene for combined FS and idiopathic epilepsies.