Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan
Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan
Division of Clinical Genetics, Tottori University Hospital, Yonago, Japan
Correspondence: Tohru Okanishi
Schuurs–Hoeijmakers syndrome is a rare autosomal dominant disorder characterized by dysmorphic facial features, intellectual disability and various physical malformations . The syndrome is caused by PACS1 mutations, the majority of which are c.607C>T, p.Arg203Trp . More than half of thecases areassociated with epilepsy , and various seizure types have been reported .
Startle epilepsy is a rare form of epilepsy induced by sudden stimuli and was categorized as a reflex [...]