Journal article
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
C Tan, C Shard, E Ranieri, K Hynes, DH Pham, D Leach, G Buchanan, M Corbett, C Shoubridge, R Kumar, E Douglas, LS Nguyen, J Mcmahon, L Sadleir, N Specchio, C Marini, R Guerrini, RS Moller, C Depienne, E Haan Show all
Human Molecular Genetics | Published : 2015
DOI: 10.1093/hmg/ddv245
Abstract
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 significantly dysregulated genes in PCDH19-FE females. Intriguingly, 43 of the 94 genes (45.7%) showed gender-biased expression; enrichment of such genes was highly significant (P = 2.51E-47, two-tailed Fisher exact test). We further investigated the AKR1C1-3 genes, which encode crucial ..
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Awarded by Australian National Health and Medical Research Council (NHMRC)
Funding Acknowledgements
This study was supported by Australian National Health and Medical Research Council (NHMRC) Program Grant (628952) and Research Fellowship (1041920) to J.G. and Insieme per la Ricerca PCDH19 - ONLUS.