A novel germline PIGA mutation causes early-onset epileptic encephalopathies in Chinese monozygotic twins
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.02.009
Abstract: 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… read more here.
Keywords: early onset; piga; onset epileptic; novel germline ... See more keywords
A novel, germline, deactivating CBL variant p.L493F alters domain orientation and is associated with multiple childhood cancers.
Sign Up to like & getrecommendations! Published in 2021 at "Cancer genetics"
DOI: 10.1016/j.cancergen.2021.01.008
Abstract: CBL is a mammalian gene encoding the protein CBL, which is an E3 ubiquitin-protein ligase involved in cell signaling and protein ubiquitination. Pathogenic variants in this gene have been implicated in a number of human… read more here.
Keywords: cbl; germline deactivating; deactivating cbl; cbl variant ... See more keywords