SYN1 Gene Mutation in a Child with Focal Epilepsy and Reflex Bathing Seizures

Abstract

Reflex seizures are evoked by a specific afferent stimulus or activity. The pathophysiology of reflex seizures is thought to be hyperexcitability of cortical or subcortical neuronal areas that respond to a physiologic stimulus in an exaggerated manner. This hyperexcitability could occur due to underlying lesions or genetic abnormalities. We present a 7-year-old Latino boy with epilepsy, autism spectrum disorder, developmental impairment, and reflex seizures triggered by water and bathing. His seizures were refractory to antiseizure medications. After multiple trials of medications, a vagal nerve stimulator was placed and desensitization therapy initiated. An epilepsy gene panel test was obtained, which showed a mutation in the SYN1 gene (c.1264C > T het, p.Arg422*). There is only one other publication of a family with SYN1 gene mutation and reflex bathing seizures. Identification of this correlation may be helpful in recognition and treatment of other patients and families with this rare presentation.

Keywords

reflex epilepsy - SYN1 gene mutation - bathing epilepsy - vagal nerve stimulator - autism

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