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

Publication date: Available online 2 March 2018
Source:Brain and Development
Author(s): Ling-ling Xie, Xiao-jie Song, Tian-yi Li, Li Jiang
We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. 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 MRI 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.



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