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

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

Open source

DOI: 10.1093/hmg/ddv245
Published: 2015-06-29
Container: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1093/hmg/ddv245,
  title = {Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency},
  author = {Chuan Tan and Chloe Shard and Enzo Ranieri and Kim Hynes and Duyen H. Pham and Damian Leach and Grant Buchanan and Mark Corbett and Cheryl Shoubridge and Raman Kumar and Evelyn Douglas and Lam S. Nguyen and Jacinta Mcmahon and Lynette Sadleir and Nicola Specchio and Carla Marini and Renzo Guerrini and Rikke S. Moller and Christel Depienne and Eric Haan and Paul Q. Thomas and Samuel F. Berkovic and Ingrid E. Scheffer and Jozef Gecz},
  year = {2015},
  journal = {Human Molecular Genetics},
  doi = {10.1093/hmg/ddv245},
  url = {https://doi.org/10.1093/hmg/ddv245}
}

RIS

TY  - JOUR
TI  - Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
AU  - Chuan Tan
AU  - Chloe Shard
AU  - Enzo Ranieri
AU  - Kim Hynes
AU  - Duyen H. Pham
AU  - Damian Leach
AU  - Grant Buchanan
AU  - Mark Corbett
AU  - Cheryl Shoubridge
AU  - Raman Kumar
AU  - Evelyn Douglas
AU  - Lam S. Nguyen
AU  - Jacinta Mcmahon
AU  - Lynette Sadleir
AU  - Nicola Specchio
AU  - Carla Marini
AU  - Renzo Guerrini
AU  - Rikke S. Moller
AU  - Christel Depienne
AU  - Eric Haan
AU  - Paul Q. Thomas
AU  - Samuel F. Berkovic
AU  - Ingrid E. Scheffer
AU  - Jozef Gecz
PY  - 2015
JO  - Human Molecular Genetics
DO  - 10.1093/hmg/ddv245
UR  - https://doi.org/10.1093/hmg/ddv245
ER  -

APA

Tan, C., Shard, C., Ranieri, E., Hynes, K., Pham, D. H., Leach, D., Buchanan, G., Corbett, M., Shoubridge, C., Kumar, R., Douglas, E., Nguyen, L. S., Mcmahon, J., Sadleir, L., Specchio, N., Marini, C., Guerrini, R., Moller, R. S., Depienne, C., Haan, E., Thomas, P. Q., Berkovic, S. F., Scheffer, I. E., & Gecz, J. (2015). Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddv245

Source records

crossref · retrieved 2026-11-10T20:41:48.774Z