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

  title={Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.},
  author={Chuan C. Tan and Chloe Shard and Enzo Ranieri and Kim Hynes and Duyen H. Pham and Damian Leach and Grant Buchanan and Mark A. Corbett and C Shoubridge and Raman Kumar and Evelyn L. Douglas and Lam Son Nguyen and Jacinta M Mcmahon and Lynette Grant Sadleir and Nicola Specchio and Carla Marini and Renzo Guerrini and Rikke S. Moller and Christel Depienne and Eric Haan and Paul Quinton Thomas and Samuel F. Berkovic and Ingrid E. Scheffer and Jozef G{\'e}cz},
  journal={Human molecular genetics},
  volume={24 18},
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… CONTINUE READING
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