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

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.