DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders

The DYNC1H1 gene (OMIM* 600,112) encodes cytoplasmic dynein 1 heavy chain 1 (DYNC1H1), the critical subunit of the cytoplasmic dynein complex 1, which functions as a microtubule-associated protein and is essential for the retrograde transport of cargo in axons and dendrites [1–3]. The DYNC1H1 gene is widely expressed in multiple tissues throughout a lifespan, including the brain (https://www.proteinatlas.org/ENSG00000197102-DYNC1H1/tissue). In mice, homozygous knock-out DYNC1H1 lead to embryonic or perinatal death [4].

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