Article
Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria.
American journal of human genetics - 10 Sept 2010
O'Driscoll Mary C, Daly Sarah B, Urquhart Jill E, Black Graeme C M, Pilz Daniela T, Brockmann Knut, McEntagart Meriel, Abdel-Salam Ghada, Zaki Maha, Wolf Nicole I, Ladda Roger L, Sell Susan, D'Arrigo Stefano, Squier Waney, Dobyns William B, Livingston John H, Crow Yanick J
Abstract excerpt
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare autosomal-recessive neurological disorder showing highly characteristic clinical and neuroradiological features. Affected individuals demonstrate early-onset seizures, severe microcephaly, and developmental arrest with bilateral, symmetrical polymicrogyria (PMG) and a band of gray matter calcification on brain imaging; as...
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