Article
Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.
Seizure - 1 Oct 2000
Domínguez-Morán J A, Barón M, de Blas G, Orensanz L M, Jiménez-Escrig A
Abstract excerpt
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...
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