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Article

MEF2C Haploinsufficiency features consistent hyperkinesis, variable epilepsy, and has a role in dorsal and ventral neuronal developmental pathways.

Neurogenetics - 1 May 2013

Paciorkowski Alex R, Traylor Ryan N, Rosenfeld Jill A, Hoover Jacqueline M, Harris Catharine J, Winter Susan, Lacassie Yves, Bialer Martin, Lamb Allen N, Schultz Roger A, Berry-Kravis Elizabeth, Porter Brenda E, Falk Marni, Venkat Anu, Vanzo Rena J, Cohen Julie S, Fatemi Ali, Dobyns William B, Shaffer Lisa G, Ballif Blake C, Marsh Eric D

Abstract excerpt

MEF2C haploinsufficiency syndrome is an emerging neurodevelopmental disorder associated with intellectual disability, autistic features, epilepsy, and abnormal movements. We report 16 new patients with MEF2C haploinsufficiency, including the oldest reported patient with MEF2C deletion at 5q14.3....

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Source

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Identifiers

PMID: 23389741
DOI: 10.1007/s10048-013-0356-y
PMCID: PMC3773516

Genes

ARX
FMR1
MECP2
TBR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23389741-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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