This website provides information on patients with variants in the SPTAN1 gene, including clinical data, molecular data, management, and research options.

The syndrome caused by variants in the SPTAN1 gene is a multisystem disorder with a broad spectrum of neurodevelopmental phenotypes. Typical patients comprise infantile onset epileptic encephalopathy with severe neurodevelopmental impairment. Some patients exhibited less severe intellectual disability with or without milder forms of childhood onset epilepsy. The other group accounts for the patients with spastic paraplegia and ataxia.
Not all individuals with a mutation in the SPTAN1 gene have these features.

This website was created to share and collect information about clinic, management, and research projects to gather more knowledge and provide better treatment of patients with mutations in the SPTAN1 gene.

Jun Tohyama, MD, PhD, National Hospital Organization Nishiniigata Chuo Hospital, Niigata, Japan, tohyama.jun.um@mail.hosp.go.jp

Hirotomo Saitsu, MD, PhD, Hamamatsu University School of Medicine, Hamamatsu, Japan, hsaitsu@hama-med.ac.jp