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Article

Focal dysplasia of the cerebral cortex and infantile spasms associated with somatic 1q21.1‐q44 duplication including the AKT3 gene

5 Aug 2014

Abstract excerpt

Somatic and germline duplications or activating mutations of AKT3 have been reported in patients with hemimegalencephaly and megalencephaly. We performed array comparative genomic hybridization on brain tissue and blood in 16 consecutive patients with symptomatic epilepsy due to focal or multilobar malformations of cortical development who underwent surgical treatment of epilepsy. One patient with infantile...

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PMID: 25091978
DOI: 10.1111/cge.12476

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