Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies

Dystroglycanopathy is a group of muscular dystrophies caused by deficient glycosylation of α-dystroglycan (α-DG) and exhibits high clinical and genetic heterogenicity. A variety of reported genes have been associated with dystroglycanopathy, including POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, ISPD, POMGNT2, POMK, TMEM5, B3GALNT2 and so on [1]. Dystroglycanopathy causes a wide spectrum of clinical severities. The severe phenotypes include Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), and Fukuyama congenital muscular dystrophy (FCMD).