Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis.
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.
Domínguez-Morán
J A
JA
Servicio de Neurología, Hospital Ramón y Cajal, Madrid, Spain.
Barón
M
M
de Blas
G
G
Orensanz
L M
LM
Jiménez-Escrig
A
A
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D004827:Epilepsy / Q000150:complications / Q000235:genetics*; D020329:Essential Tremor / Q000150:complications / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D020514:Hypokalemic Periodic Paralysis / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome