Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
Sign Up to like & getrecommendations! Published in 2022 at "Neurological Sciences"
DOI: 10.1007/s10072-021-05824-9
Abstract: DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the… read more here.
Keywords: intractable epilepsy; novel novo; whole exome; novo variant ... See more keywords