[ML] Recent Eponyms in Child Neurology: Three Men's Legacies

[ML-6] Identification of STXBP1 mutations in patients with Ohtahara syndrome

^○Hirotomo Saitsu (Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)

Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy with suppression-burst, is one of the most severe and earliest forms of epilepsy, which was first reported by Prof. Shunsuke Ohtahara in 1976. In collaboration with Dr. Mitsuhiro Kato and Dr. Hitoshi Osaka, we started genomic analysis of intractable epilepsy including OS in 2006 by positional cloning strategy. Identification of a de novo 2.0-Mb microdeletion at 9q33.3–q34.11 in a girl enables us to find that STXBP1 is a novel responsible gene for OS. In this talk, we will introduce episodes of identification of STXBP1 mutations in patients with OS.