Journal Article

Significant evidence for linkage of febrile seizures to chromosome 5q14–q15

Junko Nakayama, Kenzo Hamano, Nobuaki Iwasaki, Satoko Nakahara, Yumi Horigome, Hisako Saitoh, Takeshi Aoki, Takako Maki, Masahiro Kikuchi, Takuo Migita, Tatsuyuki Ohto, Yukako Yokouchi, Ryuta Tanaka, Makoto Hasegawa, Akira Matsui, Hideo Hamaguchi and Tadao Arinami

in Human Molecular Genetics

Volume 9, issue 1, pages 87-91
Published in print January 2000 | ISSN: 0964-6906
Published online January 2000 | e-ISSN: 1460-2083 | DOI:
Significant evidence for linkage of febrile seizures to chromosome 5q14–q15

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Febrile seizures (FSs) represent the most common form of childhood seizure. In the Japanese population, the incidence rate is as high as 7%. It has been recognized that there is a significant genetic component for susceptibility to this type of seizure. Two putative FS loci, FEB1 (chromosome 8q13–q21) and FEB2 (chromosome 19p), have been mapped. Furthermore, a mutation in the voltage-gated sodium (Na+)-channel β1 subunit gene (SCN1B) at chromosome 19q13.1 was identified in a family with a clinical subset, termed generalized epilepsy with febrile seizures plus (GEFS+). These loci are linked to some large families. In this study, we conducted a genome-wide linkage search for FS in one large family with subsequent linkage confirmation in 39 nuclear families. Significant linkage was found at D5S644 by multipoint non-parametric analysis using GENEHUNTER (P = 5.4 × 10–6). Estimated λs at D5S644 was 2.5 according to maximum likelihood analysis. Significant linkage disequilibria with FS were observed at the markers D5S644, D5S652 and D5S2079 in 47 families by transmission disequilibrium tests. These findings indicate that there is a gene on chromosome 5q14q15 that confers susceptibility to FSs and we call this gene FEB4.

Journal Article.  3447 words.  Illustrated.

Subjects: Genetics and Genomics

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