Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

doi:10.1093/hmg/ddv245

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Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

Human molecular genetics - 15 Sept 2015

Tan Chuan, Shard Chloe, Ranieri Enzo, Hynes Kim, Pham Duyen H, Leach Damian, Buchanan Grant, Corbett Mark, Shoubridge Cheryl, Kumar Raman, Douglas Evelyn, Nguyen Lam S, Mcmahon Jacinta, Sadleir Lynette, Specchio Nicola, Marini Carla, Guerrini Renzo, Moller Rikke S, Depienne Christel, Haan Eric, Thomas Paul Q, Berkovic Samuel F, Scheffer Ingrid E, Gecz Jozef

Abstract excerpt

Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EFMR; MIM300088) is an infantile onset epilepsy syndrome with or without intellectual disability (ID) and autism. We investigated transcriptomes of PCDH19-FE female and control primary skin fibroblasts, which are endowed to metabolize neurosteroid hormones. We identified a set of 94...

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PMID: 26123493
DOI: 10.1093/hmg/ddv245

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PCDH19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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