June 19, 2023 (v1)
Publication
Background: Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in KCNA1, encoding the voltage-gated K+ channel subunit Kv1.1. All of these mutations are either transmitted in an autosomal-dominant mode or found as de novo events. Methods: A patient presenting with a severe...
Uploaded on: June 21, 2023