Channelpedia

PubMed 11034874


Referenced in Channelpedia wiki pages of: none

Automatically associated channels: Cav1.1



Title: Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.

Authors: J A Domínguez-Morán, M Barón, G de Blas, L M Orensanz, A Jiménez-Escrig

Journal, date & volume: , 2000 Oct , 9, 493-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/11034874


Abstract
We report the clinical features of, and the molecular study performed on, a Spanish family with essential tremor (ET), late onset epilepsy and autosomal dominant hypokalemic periodic paralysis (hypoPP). The presence of hypoPP in this kindred suggested an ion channel as a candidate gene for ET. Our study identified an Arg528His CACNL1A3 mutation in patients with hypoPP, and excluded this mutation as the cause of tremor or epilepsy in this kindred.