Article
Functional consequences of SLC1A3 mutations associated with episodic ataxia 6.
Human mutation - 1 Nov 2020
Chivukula Aparna S, Suslova Mariia, Kortzak Daniel, Kovermann Peter, Fahlke Christoph
Abstract excerpt
The episodic ataxias (EA) are a group of inherited neurological diseases characterized by paroxysmal cerebellar incoordination. There exist nine forms of episodic ataxia with distinct neurological symptoms and genetic origins. Episodic ataxia type 6 (EA6) differs from other EA forms in long attack duration, epilepsy and absent myokymia, nystagmus, and tinnitus. It has been described in seven families, and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.