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Article

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Annals of neurology - 1 Jan 2014

De Fusco Maurizio, Vago Riccardo, Striano Pasquale, Di Bonaventura Carlo, Zara Federico, Mei Davide, Kim Min Seuk, Muallem Shmuel, Chen Yunjia, Wang Qin, Guerrini Renzo, Casari Giorgio

Abstract excerpt

OBJECTIVE: Autosomal dominant cortical myoclonus and epilepsy (ADCME) is characterized by distal, fairly rhythmic myoclonus and epilepsy with variable severity. We have previously mapped the disease locus on chromosome 2p11.1-q12.2 by genome-wide linkage analysis. Additional pedigrees affected by similar forms of epilepsy have been associated with chromosomes 8q, 5p, and 3q, but none of the causing genes has been...

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Identifiers

PMID: 24114805
DOI: 10.1002/ana.24028
PMCID: PMC3932827

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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