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Article

Genetic Malformations of the Cerebral Cortex and Epilepsy

1 Mar 2005

Abstract excerpt

We reviewed the epileptogenic cortical malformations for which a causative gene has been cloned or a linkage obtained. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with epilepsy in female patients and prenatal lethality in most males. About 90% of patients have focal epilepsy. Filamin A mutations have been reported in all families and in approximately 20% of sporadic...

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PMID: 15816977
DOI: 10.1111/j.0013-9580.2005.461010.x

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