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

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. (C) 2000 BEA Trading Ltd.