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