John Libbey Eurotext

Intractable startle epilepsy in Schuurs – Hoeijmakers syndrome Volume 24, issue 3, June 2022

Figures

  • Figure 1.
Authors
1 Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan
2 Comprehensive Epilepsy Center, Seirei Hamamatsu General Hospital, Hamamatsu, Shizuoka, Japan
3 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 [1]. The syndrome is caused by PACS1 mutations, the majority of which are c.607C>T, p.Arg203Trp [2]. More than half of thecases areassociated with epilepsy [3], and various seizure types have been reported [4].Startle epilepsy is a rare form of epilepsy induced by sudden stimuli and was categorized as a reflex epilepsy in the 2001 [...]