Journal of Pediatric Epilepsy 2017; 06(02): 119-124
DOI: 10.1055/s-0037-1599193
Case Report
Georg Thieme Verlag KG Stuttgart · New York

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

Deepa Sirsi
1  Department of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States
,
Dallas Armstrong
1  Department of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States
,
Jorge Muñoz-Bibiloni
1  Department of Pediatric Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States
2  San Jorge Children's Hospital and Hospital San Francisco, San Juan, Puerto Rico, United States
,
Bridget Redondo
3  Department of Pediatric Psychology, Children's Medical Center, Dallas, Texas, United States
,
Jason Y. Park
4  Department of Pathology and the Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas, United States
› Author Affiliations
Further Information

Publication History

28 June 2016

25 August 2016

Publication Date:
07 March 2017 (online)

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.