Ontology highlight
ABSTRACT:
SUBMITTER: Verdura E
PROVIDER: S-EPMC7029237 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Verdura Edgard E Fons Carme C Schlüter Agatha A Ruiz Montserrat M Fourcade Stéphane S Casasnovas Carlos C Castellano Antonio A Pujol Aurora A
Journal of medical genetics 20191005 2
<h4>Background</h4>Since 1994, over 50 families affected by the episodic ataxia type 1 disease spectrum have been described with mutations in <i>KCNA1</i>, encoding the voltage-gated K<sup>+</sup> channel subunit Kv1.1. All of these mutations are either transmitted in an autosomal-dominant mode or found as <i>de novo</i> events.<h4>Methods</h4>A patient presenting with a severe combination of dyskinesia and neonatal epileptic encephalopathy was sequenced by whole-exome sequencing (WES). A candid ...[more]