Ontology highlight
ABSTRACT:
SUBMITTER: Karalok ZS
PROVIDER: S-EPMC6094999 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Karalok Zeynep S ZS Megaro Alfredo A Cenciarini Marta M Guven Alev A Hasan Sonia M SM Taskin Birce D BD Imbrici Paola P Ceylaner Serdar S Pessia Mauro M D'Adamo Maria C MC
Frontiers in neurology 20180725
Episodic ataxia type 1 (EA1), a <i>Shaker</i>-like K<sup>+</sup><i>channelopathy</i>, is a consequence of genetic anomalies in the <i>KCNA1</i> gene that lead to dysfunctions in the voltage-gated K<sup>+</sup> channel Kv1. 1. Generally, <i>KCNA1</i> mutations are inherited in an autosomal dominant manner. Here we report the clinical phenotype of an EA1 patient characterized by ataxia attacks that decrease in frequency with age, and eventually leading to therapy discontinuation. A new <i>de novo< ...[more]