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Article

Familial cortical myoclonus with a mutation in NOL3.

Annals of neurology - 1 Aug 2012

Russell Jonathan F, Steckley Jamie L, Coppola Giovanni, Hahn Angelika F G, Howard MacKenzie A, Kornberg Zachary, Huang Alden, Mirsattari Seyed M, Merriman Barry, Klein Eric, Choi Murim, Lee Hsien-Yang, Kirk Andrew, Nelson-Williams Carol, Gibson Gillian, Baraban Scott C, Lifton Richard P, Geschwind Daniel H, Fu Ying-Hui, Ptáček Louis J

Abstract excerpt

OBJECTIVE: Myoclonus is characterized by sudden, brief involuntary movements, and its presence is debilitating. We identified a family suffering from adult onset, cortical myoclonus without associated seizures. We performed clinical, electrophysiological, and genetic studies to define this phenotype. METHODS: A large, 4-generation family with a history of myoclonus underwent careful questioning, examination, and...

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Source

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Identifiers

PMID: 22926851
DOI: 10.1002/ana.23666
PMCID: PMC3431191

Genes

NOL3

Provenance

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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