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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 
 
 

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.[1]

References

  1. Clinical-molecular study of a family with essential tremor, late onset seizures and periodic paralysis. Domínguez-Morán, J.A., Barón, M., de Blas, G., Orensanz, L.M., Jiménez-Escrig, A. Seizure : the journal of the British Epilepsy Association. (2000) [Pubmed]
 
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