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De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations

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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… Click to show full 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.

Keywords: infantile developmental; causes infantile; mutation causes; dync1h1 mutation; developmental epileptic; novo dync1h1

Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2022

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