Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

Abstract excerpt

X-linked periventricular nodular heterotopia (PNH) (OMIM 300049) is a neuronal migration disorder, associated with mutations of the FLN1 gene (Xq28), accompanied by severe epilepsy and normal to mildly impaired cognitive function in affected women. The recurrence risk has been estimated to be 50% in daughters of affected women, with early post-natal lethality in boys. Mutation analysis [denaturing...

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