Seizure Related Gene 6 (SEZ6)

No mutations were found in healthy controls, but 21 of the patients with FS had mutations in SEZ-6, and the most common type of mutation was a heterozygous, cytosine insertion at position 1435 of the cDNA. The mutation incidence was significantly higher in patients with complex FS and in patients with a positive family history. Sixteen of 42 patients with simple FS experienced seizure recurrence during the 1-5-year follow-up period. Fifteen of 18 patients with complex FS also experienced a recurrence during this period. Among these patients with recurrences, five patients with simple FS and six patients with complex FS have developed epilepsy. The human SEZ-6 gene is related to the occurrence and development of FS and may be a novel candidate gene for epilepsy.