Article
[A male case of subcortical band heterotopia with somatic mosaicism of DCX mutation].
No to hattatsu = Brain and development - 1 Sept 2013
Igarashi Aiko, Kawatani Masao, Ohta Genrei, Kometani Hiroshi, Ohshima Yusei, Kato Mitsuhiro
Abstract excerpt
This report describes a male case of subcortical band heterotopia (SBH) with somatic mosaicism of doublecortin (DCX) mutation. His brain MRI revealed bilateral SBH with anterior dominant pachygyria. Although he had infantile spasms from 5-months old and showed mild developmental delay, he responded well to vitamin B6 and ACTH therapy. We conducted DCX mutation analysis using peripheral blood lymphocytes of the...
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