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Journal of Pediatric Epilepsy 2015; 04(01): 035-040
DOI: 10.1055/s-0035-1554790
Review Article
Georg Thieme Verlag KG Stuttgart · New York

16p11.2 Microdeletion/Microduplication Syndrome and Benign Infantile Epilepsy

Reimi Tsurusawa
1   Department of Pediatrics, Chikushi Hospital, Fukuoka University, Chikushino, Japan
,
Yukiko Ihara
2   Department of Pediatrics, Fukuoka University, Fukuoka, Japan
,
Atsushi Ogawa
1   Department of Pediatrics, Chikushi Hospital, Fukuoka University, Chikushino, Japan
,
Toshiyuki Yamamoto
3   Tokyo Women's Medical University Integrated Medical Sciences, Tokyo, Japan
› Author Affiliations
Further Information

Publication History

17 September 2014

23 September 2014

Publication Date:
03 July 2015 (online)

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Abstract

The 16p11.2 microdeletion/microduplication syndrome is one of the most commonly observed genomic disorders derived from nonallelic homologous recombination surrounded by segmental duplications. Initially, the typical 16p11.2 microdeletions/microduplications were believed to be associated with a 1% prevalence in the autistic spectrum disorder. However, phenotypic heterogeneity and variable penetrance are recognized in autistic spectrum disorder, and there are carriers of 16p11.2 microdeletions/microduplications who showed no definitive phenotypic features. The typical 16p11.2 microdeletions/microduplications are ∼600 kb in size comprising 29 genes, including the proline-rich transmembrane protein 2 (PRRT2) gene. Loss-of-function mutations of PRRT2 cause benign infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. This suggests that haploinsufficiency of PRRT2 due to 16p11.2 microdeletions/microduplications can cause infantile epilepsy and/or paroxysmal kinesigenic dyskinesia. Indeed, some patients who harbor 16p11.2 microdeletions/microduplications are associated with such phenotypic features. Epilepsy in patients with 16p11.2 microdeletions/microduplications is self-limited and easy to manage with antiepileptic drugs. We review the association between benign infantile epilepsy and the 16p11.2 microdeletion/microduplication syndrome, together with the presentation of our own experience.

Keywords

epilepsy - 16p11.2 microdeletions/microduplications - PRRT2 - benign familial infantile epilepsy - benign partial epilepsy in infancy - paroxysmal kinesigenic dyskinesia
 

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