De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations
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DOI: 10.1002/mgg3.1874
Abstract: The human dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene encodes a large subunit of the cytoplasmic dynein complex. DYNC1H1 mutations are associated with various neurological diseases involving both the peripheral and central nervous systems. read more here.
Keywords: infantile developmental; causes infantile; mutation causes; dync1h1 mutation ... See more keywords