Article
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
Journal of molecular medicine (Berlin, Germany) - 1 Dec 2013
Martí-Massó Jose Felix, Bergareche Alberto, Makarov Vladimir, Ruiz-Martinez Javier, Gorostidi Ana, López de Munain Adolfo, Poza Juan Jose, Striano Pasquale, Buxbaum Joseph D, Paisán-Ruiz Coro
Abstract excerpt
UNLABELLED: Familial cortical myoclonic tremor and epilepsy is a phenotypically and genetically heterogeneous autosomal dominant disorder characterized by the presence of cortical myoclonic tremor and epilepsy that is often accompanied by additional neurological features. Despite the numerous familial studies performed and the number of loci identified, there is no gene associated with this syndrome. It is...
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