Two cases of DYNC1H1 mutations with intractable epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Brain and Development"
DOI: 10.1016/j.braindev.2021.05.005
Abstract: BACKGROUND The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type 20, spinal muscular atrophy, lower… read more here.
Keywords: myoclonic seizures; intractable epilepsy; aaa6 domain; dync1h1 mutations ... See more keywords