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Journal of Pediatric Epilepsy 2012; 01(03): 171-178
DOI: 10.3233/PEP-2012-027
Review Article
Georg Thieme Verlag KG Stuttgart – New York

MEF2C haploinsufficiency syndrome: A severe neurodevelopmental disorder with variable epilepsy

Alex R. Paciorkowski
a   Department of Neurology, University of Washington, Seattle, WA, USA
b   Center for Integrated Brain Research, Seattle Children’s Research Institute, University of Washington School of Medicine, Seattle, WA, USA
,
Brenda E. Porter
c   Department of Neurology, The Children’s Hospital of Philadelphia at the Pearlman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA
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Publication History

14 November 2011

20 January 2012

Publication Date:
17 July 2015 (online)

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Abstract

MEF2C haploinsuffiency syndrome is one of several recently identified conditions that have abnormalities in multiple areas of neurologic function. Infant-onset myoclonic seizures and infantile spasms are common, but later-onset forms of epilepsy have been reported as well. Most children have a hyperkinetic movement disorder consisting of frequent stereotypies that aid in clinical recognition of the syndrome. There is evidence that MEF2C is a member of several key neurodevelopmental genetic pathways, and the hope is that in the future one or more of these pathways may be amenable to pharmacologic modification with the goal of symptom improvement.

Keywords

MEF2C haploinsufficiency - infantile spasms - infant myoclonic epilepsy - hyperkinesis