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 Volume 63, Number 10, November 23, 2004
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NEUROLOGY 2004;63:1803-1807
© 2004 American Academy of Neurology

Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18

J. Nakayama, MD, PhD, N. Yamamoto, MS, K. Hamano, MD, PhD, N. Iwasaki, MD, PhD, M. Ohta, MD, S. Nakahara, MD, PhD, A. Matsui, MD, PhD, E. Noguchi, MD, PhD and T. Arinami, MD, PhD

From the Departments of Medical Genetics (Drs. Nakayama, Noguchi, and Arinami, N. Yamamoto) and Pediatrics (Drs. Nakayama, Iwasaki, and Matsui), University of Tsukuba, Kitaibaraki Municipal General Hospital (Dr. Hamano), Toride Kyodo General Hospital (Dr. Ohta), and Kensei General Hospital (Dr. Nakahara), Ibaraki, Japan.

Address correspondence and reprint requests to Dr. T. Arinami, Department of Medical Genetics, Institute of Basic Medical Sciences, University of Tsukuba, Tsukuba, Ibaraki-ken 305-8575, Japan; e-mail: tarinami{at}md.tsukuba.ac.jp

Background: Febrile seizures (FSs) are the most common form of childhood seizures, and genetic factors play a role in susceptibility to FS.

Objective: To identify novel loci and genes associated with susceptibility to FS.

Methods: Study participants were the FS probands and family members of 59 Japanese nuclear families (223 members including 112 affected children). Forty-eight of these families had at least two affected children for which genome-wide linkage screening was carried out. The Genehunter software was used to perform nonparametric multipoint linkage analysis. Mutational and association analyses were conducted in all 59 Japanese FS families.

Results: Genotyping data of 407 microsatellite markers suggested linkage of FSs to chromosome 18p11.2 (non-parametric linkage score = 3.68, p = 0.0001). This region includes the IMPA2 gene, which encodes myo-inositol monophosphatase (IMPase) 2. In the phosphatidylinositol-signaling pathway, IMPase is inhibited by lithium, which has a proconvulsant effect, and is stimulated by carbamazepine, an anticonvulsant. A systematic search was performed for mutations in IMPA2 in 24 unrelated randomly selected Japanese FS patients; seven variants were detected. Haplotype analysis revealed an association of a common haplotype in IMPA2 with FSs (p = 0.0009).

Conclusion: The authors found a novel locus on chromosome 18p11.2 for febrile seizures (FSs). IMPA2 is likely to be an FS susceptibility gene.

Received January 2, 2004. Accepted in final form June 18, 2004.

See also page 1770


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