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
Lacosamide and myoclonic seizures: what is the risk of aggravation?
Sign Up to like & getrecommendations! Published in 2021 at "Neurologia i neurochirurgia polska"
DOI: 10.5603/pjnns.a2021.0008
Abstract: Lacosamide (LCM), a novel antiseizure medication (ASM), is believed to exert its anticonvulsant action through selective enhancement of slow inactivation of voltage-gated sodium channels. LCM is indicated for the treatment of focal seizures, and has… read more here.
Keywords: aggravation; lacosamide myoclonic; risk aggravation; seizures risk ... See more keywords