Article
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.
Epileptic disorders : international epilepsy journal with videotape - 1 Sept 2017
Okazaki Tetsuya, Saito Yoshiaki, Hiraiwa Rika, Saitoh Shinji, Kai Masachika, Adachi Kaori, Nishimura Yoko, Nanba Eiji, Maegaki Yoshihiro
Abstract excerpt
SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video-EEG, have not been reported. We report the case of a 4-year-old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and...
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