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Article

PCDH 19‐related epilepsy in two mosaic male patients

14 Jan 2016

Abstract excerpt

PCDH19 gene mutations have been recently associated with an epileptic syndrome characterized by focal and generalized seizures. The PCDH19 gene (Xq22.1) has an unusual X-linked inheritance with a selective involvement for female subjects. A cellular interference mechanism has been hypothesized and male patients can manifest epilepsy only in the case of a mosaicism. So far about 100 female patients, and only one...

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PMID: 26765483
DOI: 10.1111/epi.13295

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