Article
Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation.
Journal of child neurology - 1 Apr 2013
Moosa Ahsan N V, Traboulsi Elias I, Reid Janet, Prieto Lourdes, Moran Rocio, Friedman Neil R
Abstract excerpt
Mutations in the smooth muscle-specific isoform of α-actin (ACTA2) cause vascular smooth muscle dysfunction leading to aortic aneurysm and moyamoya syndrome. A unique R179H mutation in ACTA2 has been reported to result in widespread smooth muscle dysfunction affecting vascular and extravascular smooth muscles. We report a 7-year-old girl with an ACTA2 R179H mutation manifesting with neonatal seizures due to...
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