Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families

Weber, YG; Berger, A; Bebek, NERSES; Maier, S; Karafyllakes, S; Meyer, N; Fukuyama, Y; Halbach, A; Hikel, C; Kurlemann, G; Neubauer, B; Osawa, M; Pust, B; Rating, D; Saito, K; Stephani, U; Tauer, U; Lehmann-Horn, F; Jurkat-Rott, K; Lerche, H

doi:10.1111/j.0013-9580.2004.48203.x

Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families

Weber Y., Berger A., Bebek N., Maier S., Karafyllakes S., Meyer N., ...Daha Fazla

EPILEPSIA, cilt.45, sa.6, ss.601-609, 2004 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 45 Sayı: 6
Basım Tarihi: 2004
Doi Numarası: 10.1111/j.0013-9580.2004.48203.x
Dergi Adı: EPILEPSIA
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.601-609
İstanbul Üniversitesi Adresli: Evet

Özet

Purpose: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families.