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Abnormal cell sorting underlies the unique X-linked inheritance of <i>PCDH19</i> Epilepsy

2017-08-20

Abstract excerpt

<h4>Summary</h4> X-linked diseases typically exhibit more severe phenotypes in males than females. In contrast, Protocadherin 19 ( PCDH19 ) mutations cause epilepsy in heterozygous females but spare hemizygous males. The cellular mechanism responsible for this unique pattern of X-linked inheritance is unknown. We show that PCDH19 contributes to highly specific combinatorial adhesion codes such that mosaic expre...

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Literature Corpus work
505c8aac-a12f-5018-b826-bd3138d4406b
DOI
10.1101/178822
Open publication

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