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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 fam...

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Source

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Identifiers

PMID: 23955123
DOI: 10.1007/s00109-013-1075-4
PMCID: PMC3833949

Genes

ACMSD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23955123-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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