Article
Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.
Human molecular genetics - 15 Aug 2001
Sheen V L, Dixon P H, Fox J W, Hong S E, Kinton L, Sisodiya S M, Duncan J S, Dubeau F, Scheffer I E, Schachter S C, Wilner A, Henchy R, Crino P, Kamuro K, DiMario F, Berg M, Kuzniecky R, Cole A J, Bromfield E, Biber M, Schomer D, Wheless J, Silver K, Mochida G H, Berkovic S F, Andermann F, Andermann E, Dobyns W B, Wood N W, Walsh C A
Abstract excerpt
Periventricular heterotopia (PH) is a human neuronal migration disorder in which many neurons destined for the cerebral cortex fail to migrate. Previous analysis showed heterozygous mutations in the X-linked gene filamin 1 (FLN1), but examined only the first six (of 48) coding exons of the gene and hence did not assess the incidence and functional consequences of FLN1 mutations. Here we perform single-strand...
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