Ontology highlight
ABSTRACT:
SUBMITTER: D'Adamo MC
PROVIDER: S-EPMC4295438 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
D'Adamo Maria C MC Gallenmüller Constanze C Servettini Ilenio I Hartl Elisabeth E Tucker Stephen J SJ Arning Larissa L Biskup Saskia S Grottesi Alessandro A Guglielmi Luca L Imbrici Paola P Bernasconi Pia P Di Giovanni Giuseppe G Franciolini Fabio F Catacuzzeno Luigi L Pessia Mauro M Klopstock Thomas T
Frontiers in physiology 20150115
Episodic ataxia type 1 (EA1) is an autosomal dominant K(+) channelopathy which manifests with short attacks of cerebellar ataxia and dysarthria, and may also show interictal myokymia. Episodes can be triggered by emotional or physical stress, startle response, sudden postural change or fever. Here we describe a 31-year-old man displaying markedly atypical symptoms, including long-lasting attacks of jerking muscle contractions associated with hyperthermia, severe migraine, and a relatively short- ...[more]