A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins

摘要

We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysrnorphism. They presented with refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of 6 months. Electroencephalograms mainly revealed fast activity in left occipital region and generalized high amplitude polyspikes and wave. Brain MRl was normal. A de novo germline hemizygous mutation, C.110 T C (p.37 M T), in exon 2 of PIGA was confirmed, which indicated that a novel germline mutation in PIGA leads to early-onset epileptic encephalopathies. (C) 2018 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.