Article
Identification of DCX gene mutation in lissencephaly spectrum with subcortical band heterotopia using whole exome sequencing.
Pediatric neurology - 1 May 2013
Jang Mi-Ae, Woo Hye In, Kim Jong-Won, Lee Jeehun, Ki Chang-Seok
Abstract excerpt
Malformations of cortical development include a wide range of brain developmental anomalies that commonly lead to developmental delay and epilepsy. Lissencephaly and subcortical band heterotopia are major malformations of cortical development due to abnormal neuronal migration and several genes have been identified including ARX, DCX, LIS1, RELN, TUBA1A, and VLDLR. Traditionally, genetic testing for lissencephaly...
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