Seizures and Eeg Characteristics In A Cohort of Pediatric Dystroglycanopathy Patients

Purpose：To delineate the seizure type, phenotype and V-EEG patterns of dystroglycanopathy (DGP) and correlate them with the neuroradiological and genetic results. Methods：Patients with seizures were screened from our dystroglycanopathy database. Detailed clinical information, including seizure type, brain magnetic resonance imaging (MRI), EEG and genetic analysis, was collected. Results：Thirteen patients (15.1%, 13/86) had seizures. Most patients had a severe phenotype. The most common seizure type was generalized tonic-clonic seizure (GTCS), with 92.3% (12/13) induced by fever. Three patients were diagnosed with epilepsy. Of the 13 patients, seven patients were diagnosed with MEB, five patients with POMGNT1 mutations, and two with ISPD mutations. Three patients were diagnosed with FCMD with FKTN mutations. Two patients were diagnosed with CMD-MR, one patient with ISPD mutation, and one with POMT1 mutation. One patient was diagnosed with LGMD with FKRP mutation. Seven patients had abnormal EEG results, including abnormal basic activities in three patients, abnormal basic activities combined with epileptic discharge in three patients, pure epileptic discharge in one patient and positive phase sharp waves in the occipital region in one patient. For radiology, patients with cortical malformation usually had abnormal basic activities and epileptic discharge. Conclusion: The seizure phenotype of dystroglycanopathy (DGP) is characterized by GTCS. Most seizures were induced by fever. Seizures were more frequent in severe phenotypes of DGP, such as FCMD and MEB. Abnormal basic activities were the most common EEG patterns, which were related to cortical malformation. Keywords: dystroglycanopathy, EEG, seizure, type II lissyencephaly