TY  - GEN
AU  - Tan,Chuan
AU  - Shard,Chloe
AU  - Ranieri,Enzo
AU  - Hynes,Kim
AU  - Pham,Duyen H
AU  - Leach,Damian
AU  - Buchanan,Grant
AU  - Corbett,Mark
AU  - Shoubridge,Cheryl
AU  - Kumar,Raman
AU  - Douglas,Evelyn
AU  - Nguyen,Lam S
AU  - Mcmahon,Jacinta
AU  - Sadleir,Lynette
AU  - Specchio,Nicola
AU  - Marini,Carla
AU  - Guerrini,Renzo
AU  - Moller,Rikke S
AU  - Depienne,Christel
AU  - Haan,Eric
AU  - Thomas,Paul Q
AU  - Berkovic,Samuel F
AU  - Scheffer,Ingrid E
AU  - Gecz,Jozef
TI  - Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency
SN  - 1460-2083
PY  - 2016///0531
KW  - 3-Hydroxysteroid Dehydrogenases
KW  - genetics
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Aldo-Keto Reductase Family 1 Member C3
KW  - Cadherins
KW  - Child
KW  - Child, Preschool
KW  - Cluster Analysis
KW  - Epilepsy
KW  - blood
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Gene Expression Profiling
KW  - Gene Expression Regulation
KW  - Gene Regulatory Networks
KW  - Humans
KW  - Hydroxyprostaglandin Dehydrogenases
KW  - Infant
KW  - Infant, Newborn
KW  - Intellectual Disability
KW  - Middle Aged
KW  - Mutation
KW  - Phenotype
KW  - Pregnanolone
KW  - Protocadherins
KW  - Reproducibility of Results
KW  - Signal Transduction
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddv245
ER  -