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

作者：Xie Ling-ling; Song Xiao-jie; Li Tian-yi; Jiang Li^*

来源：Brain & Development, 2018, 40(7): 596-600.

DOI：10.1016/j.braindev.2018.02.009

• PIGA
• Dysmorphis
• Early onset epileptic encephalopathies

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.

• 出版日期2018-8
• 单位重庆医科大学