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Article

A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia.

Journal of child neurology - 1 Feb 2014

Lim Byung Chan, Min Byung-Joo, Park Woong-Yang, Oh Sun Kyung, Woo Mi Jung, Choi Jin Sun, Kim Ki Joong, Hwang Yong Seung, Chae Jong Hee

Abstract excerpt

The voltage-gated sodium channel genes and HOXD genes are clustered on chromosome 2q, and duplication of this region is associated with 2 clinical phenotypes: early-onset epilepsy and mesomelic dysplasia Kantaputra type, respectively. We report a case involving 2q24.3-2q32.1 duplication encompassing both the voltage-gated sodium channel and HOXD gene clusters, which were detected by a comparative genomic...

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PMID: 23456534
DOI: 10.1177/0883073813478659

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