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

• DOI: 10.1016/j.seizure.2022.07.008
• Publication Date: 2022-07-13T06:13:00Z
• Authors: Haipo Yang; Danyu Song; Yidan Liu; Xiaoyu Chen; Ying Zhu; Cuijie Wei; Xiaona Fu; Xiaoyan Liu; Zhixian Yang; Hui Xiong
• Keywords: Seizure types; Polymicrogyria; Cerebellar hypoplasia (non-human)

To delineate the seizure type, phenotype and V-EEG patterns of dystroglycanopathy (DGP) correlate them with neuroradiological genetic results.Patients seizures were screened from our database January 2010 to March 2021. Detailed clinical information, including brain magnetic resonance imaging (MRI), EEG analysis, was collected.Thirteen patients (15.1%, 13/86) had seizures. Most a severe phenotype. The mean age at first onset 2 years 8 months. most common type generalized tonic-clonic (GTCS), 92.3% (12/13) induced by fever. Three diagnosed epilepsy. did not take any medicine. A few irregular use antiseizure medications (ASMs). Of 13 patients, seven MEB, four POMGNT1 mutations, two ISPD one POMT1 mutation. FCMD FKTN mutations. Two CMD-MR, patient mutation, One LGMD FKRP Nine underwent examination, eight abnormal results, background activities in three combined paroxysmal discharges pure positive phase sharp waves occipital region patient. For radiology, MRI available for 12 patients. nine showed II lissencephaly. cerebellar hypoplasia brainstem hypoplasia. normal result. Patients lissencephaly usually discharges.The is characterized GTCS, which while focal epileptic spasms could also occur DGP Seizures relatively more frequent phenotypes DGP, such as MEB. Abnormal patterns, closely related