Identification of responsive genes for infantile epilepsy using genomic microarray

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Thorough genomic microarray analysis of patients with infantile epilepsy, we identified a de novo microdeletion at 9q33.3-q34.11 in a patient with Ohtahara syndrome. Among the genes mapped within the deletion, STXBP1 was found to be mutated in four patients with Ohtahara syndrome, indicating that mutations of STXBP1 caused Ohtahara syndrome (Saitsu et al., Nature Genetics, 2008). This finding raised a novel mechanism in which aberration of synaptic vesicle release would cause epilepsy.