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Article

Focal cortical malformations in children with early infantile epilepsy and PCDH 19 mutations: case report

24 Oct 2017

Abstract excerpt

In this case report we assess the occurrence of cortical malformations in children with early infantile epilepsy associated with variants of the gene protocadherin 19 (PCDH19). We describe the clinical course, and electrographic, imaging, genetic, and neuropathological features in a cohort of female children with pharmacoresistant epilepsy. All five children (mean age 10y) had an early onset of epilepsy during...

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PMID: 29064093
DOI: 10.1111/dmcn.13595

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