AustralieFrV1, Main, Exploration, bibRecord, 002B03

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

Identifieur interne : 002B03 ( Main/Exploration ); précédent : 002B02; suivant : 002B04

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

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

Source :

Human molecular genetics [ 1460-2083 ] ; 2015.

RBID : pubmed:26123493

Descripteurs français

English descriptors

KwdEn :
- 3-Hydroxysteroid Dehydrogenases (genetics), 3-Hydroxysteroid Dehydrogenases (metabolism), Adolescent, Adult, Age of Onset, Cadherins (genetics), Child, Child, Preschool, Cluster Analysis, Epilepsy (blood), Epilepsy (diagnosis), Epilepsy (genetics), Female, Fibroblasts (metabolism), Gene Expression Profiling, Gene Expression Regulation, Gene Regulatory Networks, Humans, Hydroxyprostaglandin Dehydrogenases (genetics), Hydroxyprostaglandin Dehydrogenases (metabolism), Infant, Infant, Newborn, Intellectual Disability (genetics), Middle Aged, Mutation, Phenotype, Pregnanolone (blood), Pregnanolone (deficiency), Reproducibility of Results, Signal Transduction, Young Adult.
MESH :
- chemical , blood : Pregnanolone.
- chemical , deficiency : Pregnanolone.
- chemical , genetics : 3-Hydroxysteroid Dehydrogenases, Cadherins, Hydroxyprostaglandin Dehydrogenases.
- chemical , metabolism : 3-Hydroxysteroid Dehydrogenases, Hydroxyprostaglandin Dehydrogenases.
- blood : Epilepsy.
- diagnosis : Epilepsy.
- genetics : Epilepsy, Intellectual Disability.
- metabolism : Fibroblasts.
- Adolescent, Adult, Age of Onset, Child, Child, Preschool, Cluster Analysis, Female, Gene Expression Profiling, Gene Expression Regulation, Gene Regulatory Networks, Humans, Infant, Infant, Newborn, Middle Aged, Mutation, Phenotype, Reproducibility of Results, Signal Transduction, Young Adult.

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 steroid hormone-metabolizing enzymes whose key products include allopregnanolone and estradiol. Both mRNA and protein levels of AKR1C3 were significantly decreased in PCDH19-FE patients. In agreement with this, the blood levels of allopregnanolone were also (P < 0.01) reduced. In conclusion, we show that the deficiency of neurosteroid allopregnanolone, one of the most potent GABA receptor modulators, may contribute to PCDH19-FE. Overall our findings provide evidence for a role of neurosteroids in epilepsy, ID and autism and create realistic opportunities for targeted therapeutic interventions.

DOI: 10.1093/hmg/ddv245
PubMed: 26123493

Affiliations:

Le document en format XML

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<author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name>
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<author><name sortKey="Nguyen, Lam S" sort="Nguyen, Lam S" uniqKey="Nguyen L" first="Lam S" last="Nguyen">Lam S. Nguyen</name>
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<author><name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
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<author><name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name>
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<author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name>
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<author><name sortKey="Moller, Rikke S" sort="Moller, Rikke S" uniqKey="Moller R" first="Rikke S" last="Moller">Rikke S. Moller</name>
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<wicri:regionArea>Danish Epilepsy Centre, Dianalund, Denmark, Institute of Regional Health Services Research, University of Southern Denmark, Odense</wicri:regionArea>
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<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
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<author><name sortKey="Thomas, Paul Q" sort="Thomas, Paul Q" uniqKey="Thomas P" first="Paul Q" last="Thomas">Paul Q. Thomas</name>
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<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name>
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<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name>
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<country xml:lang="fr">Australie</country>
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<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
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<country wicri:rule="url">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia</wicri:regionArea>
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<author><name sortKey="Pham, Duyen H" sort="Pham, Duyen H" uniqKey="Pham D" first="Duyen H" last="Pham">Duyen H. Pham</name>
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<author><name sortKey="Leach, Damian" sort="Leach, Damian" uniqKey="Leach D" first="Damian" last="Leach">Damian Leach</name>
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<author><name sortKey="Buchanan, Grant" sort="Buchanan, Grant" uniqKey="Buchanan G" first="Grant" last="Buchanan">Grant Buchanan</name>
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</affiliation>
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<author><name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, SA</wicri:regionArea>
<wicri:noRegion>SA</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name>
<affiliation wicri:level="1"><nlm:affiliation>SA Pathology, Adelaide, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>SA Pathology, Adelaide</wicri:regionArea>
<wicri:noRegion>Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Nguyen, Lam S" sort="Nguyen, Lam S" uniqKey="Nguyen L" first="Lam S" last="Nguyen">Lam S. Nguyen</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris 75015, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, INSERM UMR 1163, Laboratory of Molecular and Pathophysiological Bases of Cognitive Disorders, Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Necker-Enfants Malades Hospital, Paris 75015</wicri:regionArea>
<wicri:noRegion>75015</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Mcmahon, Jacinta" sort="Mcmahon, Jacinta" uniqKey="Mcmahon J" first="Jacinta" last="Mcmahon">Jacinta Mcmahon</name>
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<author><name sortKey="Sadleir, Lynette" sort="Sadleir, Lynette" uniqKey="Sadleir L" first="Lynette" last="Sadleir">Lynette Sadleir</name>
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<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Department of Paediatrics and Child Health, School of Medicine and Health Sciences, University of Otago, Wellington</wicri:regionArea>
<wicri:noRegion>Wellington</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
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<country xml:lang="fr">Italie</country>
<wicri:regionArea>Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, P.za S. Onofrio Rome 400165</wicri:regionArea>
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</affiliation>
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<author><name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name>
<affiliation wicri:level="1"><nlm:affiliation>Neuroscience Department, Children's Hospital A. Meyer, University of Florence, Firenze, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuroscience Department, Children's Hospital A. Meyer, University of Florence, Firenze</wicri:regionArea>
<wicri:noRegion>Firenze</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name>
<affiliation wicri:level="1"><nlm:affiliation>Neuroscience Department, Children's Hospital A. Meyer, University of Florence, Firenze, Italy.</nlm:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Neuroscience Department, Children's Hospital A. Meyer, University of Florence, Firenze</wicri:regionArea>
<wicri:noRegion>Firenze</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Moller, Rikke S" sort="Moller, Rikke S" uniqKey="Moller R" first="Rikke S" last="Moller">Rikke S. Moller</name>
<affiliation wicri:level="1"><nlm:affiliation>Danish Epilepsy Centre, Dianalund, Denmark, Institute of Regional Health Services Research, University of Southern Denmark, Odense, Denmark.</nlm:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Danish Epilepsy Centre, Dianalund, Denmark, Institute of Regional Health Services Research, University of Southern Denmark, Odense</wicri:regionArea>
<wicri:noRegion>Odense</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
<affiliation wicri:level="1"><nlm:affiliation>Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Sorbonne Universités, UPMC Univ Paris 06, Paris F-75013, France, Département de Génétique et de Cytogénétique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris F-75013, France.</nlm:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm, CNRS, UM 75, U 1127, UMR 7225, ICM, Sorbonne Universités, UPMC Univ Paris 06, Paris F-75013, France, Département de Génétique et de Cytogénétique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris F-75013</wicri:regionArea>
<wicri:noRegion>75013</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>School of Paediatrics and Reproductive Health, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia, South Australian Clinical Genetics Service, SA Pathology, North Adelaide</wicri:regionArea>
<wicri:noRegion>North Adelaide</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Thomas, Paul Q" sort="Thomas, Paul Q" uniqKey="Thomas P" first="Paul Q" last="Thomas">Paul Q. Thomas</name>
<affiliation><nlm:affiliation>School of Molecular and Biomedical Sciences.</nlm:affiliation>
<wicri:noCountry code="no comma">School of Molecular and Biomedical Sciences.</wicri:noCountry>
</affiliation>
</author>
<author><name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name>
<affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, The University of Melbourne, Melbourne, VIC, Australia, Epilepsy Research Centre, The University of Melbourne, Melbourne, Australia and Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, The University of Melbourne, Melbourne, VIC, Australia, Epilepsy Research Centre, The University of Melbourne, Melbourne, Australia and Florey Institute of Neuroscience and Mental Health, Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name>
<affiliation wicri:level="4"><nlm:affiliation>Epilepsy Research Centre, The University of Melbourne, Melbourne, VIC, Australia, Epilepsy Research Centre, The University of Melbourne, Melbourne, Australia and Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.</nlm:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Epilepsy Research Centre, The University of Melbourne, Melbourne, VIC, Australia, Epilepsy Research Centre, The University of Melbourne, Melbourne, Australia and Florey Institute of Neuroscience and Mental Health, Melbourne</wicri:regionArea>
<placeName><settlement type="city">Melbourne</settlement>
<region type="état">Victoria (État)</region>
<settlement type="city">Melbourne</settlement>
</placeName>
<orgName type="university">Université de Melbourne</orgName>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation wicri:level="1"><nlm:affiliation>School of Paediatrics and Reproductive Health, School of Molecular and Biomedical Sciences, SA Pathology, Adelaide, Australia, Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia, jozef.gecz@adelaide.edu.au.</nlm:affiliation>
<country wicri:rule="url">Australie</country>
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<wicri:noRegion>Australia</wicri:noRegion>
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<series><title level="j">Human molecular genetics</title>
<idno type="eISSN">1460-2083</idno>
<imprint><date when="2015" type="published">2015</date>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>3-Hydroxysteroid Dehydrogenases (genetics)</term>
<term>3-Hydroxysteroid Dehydrogenases (metabolism)</term>
<term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Cadherins (genetics)</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cluster Analysis</term>
<term>Epilepsy (blood)</term>
<term>Epilepsy (diagnosis)</term>
<term>Epilepsy (genetics)</term>
<term>Female</term>
<term>Fibroblasts (metabolism)</term>
<term>Gene Expression Profiling</term>
<term>Gene Expression Regulation</term>
<term>Gene Regulatory Networks</term>
<term>Humans</term>
<term>Hydroxyprostaglandin Dehydrogenases (genetics)</term>
<term>Hydroxyprostaglandin Dehydrogenases (metabolism)</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Intellectual Disability (genetics)</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Pregnanolone (blood)</term>
<term>Pregnanolone (deficiency)</term>
<term>Reproducibility of Results</term>
<term>Signal Transduction</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="KwdFr" xml:lang="fr"><term>3-Hydroxysteroid dehydrogenases (génétique)</term>
<term>3-Hydroxysteroid dehydrogenases (métabolisme)</term>
<term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de profil d'expression de gènes</term>
<term>Analyse de regroupements</term>
<term>Cadhérines (génétique)</term>
<term>Déficience intellectuelle (génétique)</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Fibroblastes (métabolisme)</term>
<term>Humains</term>
<term>Hydroxyprostaglandine dehydrogenases (génétique)</term>
<term>Hydroxyprostaglandine dehydrogenases (métabolisme)</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Prégnanolone (déficit)</term>
<term>Prégnanolone (sang)</term>
<term>Reproductibilité des résultats</term>
<term>Régulation de l'expression des gènes</term>
<term>Réseaux de régulation génique</term>
<term>Transduction du signal</term>
<term>Âge de début</term>
<term>Épilepsie (diagnostic)</term>
<term>Épilepsie (génétique)</term>
<term>Épilepsie (sang)</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="blood" xml:lang="en"><term>Pregnanolone</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="deficiency" xml:lang="en"><term>Pregnanolone</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>3-Hydroxysteroid Dehydrogenases</term>
<term>Cadherins</term>
<term>Hydroxyprostaglandin Dehydrogenases</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>3-Hydroxysteroid Dehydrogenases</term>
<term>Hydroxyprostaglandin Dehydrogenases</term>
</keywords>
<keywords scheme="MESH" qualifier="blood" xml:lang="en"><term>Epilepsy</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Epilepsy</term>
</keywords>
<keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Épilepsie</term>
</keywords>
<keywords scheme="MESH" qualifier="déficit" xml:lang="fr"><term>Prégnanolone</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Epilepsy</term>
<term>Intellectual Disability</term>
</keywords>
<keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>3-Hydroxysteroid dehydrogenases</term>
<term>Cadhérines</term>
<term>Déficience intellectuelle</term>
<term>Hydroxyprostaglandine dehydrogenases</term>
<term>Épilepsie</term>
</keywords>
<keywords scheme="MESH" qualifier="metabolism" xml:lang="en"><term>Fibroblasts</term>
</keywords>
<keywords scheme="MESH" qualifier="métabolisme" xml:lang="fr"><term>3-Hydroxysteroid dehydrogenases</term>
<term>Fibroblastes</term>
<term>Hydroxyprostaglandine dehydrogenases</term>
</keywords>
<keywords scheme="MESH" qualifier="sang" xml:lang="fr"><term>Prégnanolone</term>
<term>Épilepsie</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Adolescent</term>
<term>Adult</term>
<term>Age of Onset</term>
<term>Child</term>
<term>Child, Preschool</term>
<term>Cluster Analysis</term>
<term>Female</term>
<term>Gene Expression Profiling</term>
<term>Gene Expression Regulation</term>
<term>Gene Regulatory Networks</term>
<term>Humans</term>
<term>Infant</term>
<term>Infant, Newborn</term>
<term>Middle Aged</term>
<term>Mutation</term>
<term>Phenotype</term>
<term>Reproducibility of Results</term>
<term>Signal Transduction</term>
<term>Young Adult</term>
</keywords>
<keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term>
<term>Adulte</term>
<term>Adulte d'âge moyen</term>
<term>Analyse de profil d'expression de gènes</term>
<term>Analyse de regroupements</term>
<term>Enfant</term>
<term>Enfant d'âge préscolaire</term>
<term>Femelle</term>
<term>Humains</term>
<term>Jeune adulte</term>
<term>Mutation</term>
<term>Nourrisson</term>
<term>Nouveau-né</term>
<term>Phénotype</term>
<term>Reproductibilité des résultats</term>
<term>Régulation de l'expression des gènes</term>
<term>Réseaux de régulation génique</term>
<term>Transduction du signal</term>
<term>Âge de début</term>
</keywords>
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<front><div type="abstract" xml:lang="en">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 steroid hormone-metabolizing enzymes whose key products include allopregnanolone and estradiol. Both mRNA and protein levels of AKR1C3 were significantly decreased in PCDH19-FE patients. In agreement with this, the blood levels of allopregnanolone were also (P < 0.01) reduced. In conclusion, we show that the deficiency of neurosteroid allopregnanolone, one of the most potent GABA receptor modulators, may contribute to PCDH19-FE. Overall our findings provide evidence for a role of neurosteroids in epilepsy, ID and autism and create realistic opportunities for targeted therapeutic interventions.</div>
</front>
</TEI>
<affiliations><list><country><li>Australie</li>
<li>Danemark</li>
<li>France</li>
<li>Italie</li>
<li>Nouvelle-Zélande</li>
</country>
<region><li>Victoria (État)</li>
<li>Île-de-France</li>
</region>
<settlement><li>Melbourne</li>
<li>Paris</li>
</settlement>
<orgName><li>Université de Melbourne</li>
</orgName>
</list>
<tree><noCountry><name sortKey="Corbett, Mark" sort="Corbett, Mark" uniqKey="Corbett M" first="Mark" last="Corbett">Mark Corbett</name>
<name sortKey="Hynes, Kim" sort="Hynes, Kim" uniqKey="Hynes K" first="Kim" last="Hynes">Kim Hynes</name>
<name sortKey="Shard, Chloe" sort="Shard, Chloe" uniqKey="Shard C" first="Chloe" last="Shard">Chloe Shard</name>
<name sortKey="Tan, Chuan" sort="Tan, Chuan" uniqKey="Tan C" first="Chuan" last="Tan">Chuan Tan</name>
<name sortKey="Thomas, Paul Q" sort="Thomas, Paul Q" uniqKey="Thomas P" first="Paul Q" last="Thomas">Paul Q. Thomas</name>
</noCountry>
<country name="Australie"><noRegion><name sortKey="Ranieri, Enzo" sort="Ranieri, Enzo" uniqKey="Ranieri E" first="Enzo" last="Ranieri">Enzo Ranieri</name>
</noRegion>
<name sortKey="Berkovic, Samuel F" sort="Berkovic, Samuel F" uniqKey="Berkovic S" first="Samuel F" last="Berkovic">Samuel F. Berkovic</name>
<name sortKey="Buchanan, Grant" sort="Buchanan, Grant" uniqKey="Buchanan G" first="Grant" last="Buchanan">Grant Buchanan</name>
<name sortKey="Douglas, Evelyn" sort="Douglas, Evelyn" uniqKey="Douglas E" first="Evelyn" last="Douglas">Evelyn Douglas</name>
<name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<name sortKey="Haan, Eric" sort="Haan, Eric" uniqKey="Haan E" first="Eric" last="Haan">Eric Haan</name>
<name sortKey="Kumar, Raman" sort="Kumar, Raman" uniqKey="Kumar R" first="Raman" last="Kumar">Raman Kumar</name>
<name sortKey="Leach, Damian" sort="Leach, Damian" uniqKey="Leach D" first="Damian" last="Leach">Damian Leach</name>
<name sortKey="Mcmahon, Jacinta" sort="Mcmahon, Jacinta" uniqKey="Mcmahon J" first="Jacinta" last="Mcmahon">Jacinta Mcmahon</name>
<name sortKey="Pham, Duyen H" sort="Pham, Duyen H" uniqKey="Pham D" first="Duyen H" last="Pham">Duyen H. Pham</name>
<name sortKey="Scheffer, Ingrid E" sort="Scheffer, Ingrid E" uniqKey="Scheffer I" first="Ingrid E" last="Scheffer">Ingrid E. Scheffer</name>
<name sortKey="Shoubridge, Cheryl" sort="Shoubridge, Cheryl" uniqKey="Shoubridge C" first="Cheryl" last="Shoubridge">Cheryl Shoubridge</name>
</country>
<country name="France"><region name="Île-de-France"><name sortKey="Nguyen, Lam S" sort="Nguyen, Lam S" uniqKey="Nguyen L" first="Lam S" last="Nguyen">Lam S. Nguyen</name>
</region>
<name sortKey="Depienne, Christel" sort="Depienne, Christel" uniqKey="Depienne C" first="Christel" last="Depienne">Christel Depienne</name>
</country>
<country name="Nouvelle-Zélande"><noRegion><name sortKey="Sadleir, Lynette" sort="Sadleir, Lynette" uniqKey="Sadleir L" first="Lynette" last="Sadleir">Lynette Sadleir</name>
</noRegion>
</country>
<country name="Italie"><noRegion><name sortKey="Specchio, Nicola" sort="Specchio, Nicola" uniqKey="Specchio N" first="Nicola" last="Specchio">Nicola Specchio</name>
</noRegion>
<name sortKey="Guerrini, Renzo" sort="Guerrini, Renzo" uniqKey="Guerrini R" first="Renzo" last="Guerrini">Renzo Guerrini</name>
<name sortKey="Marini, Carla" sort="Marini, Carla" uniqKey="Marini C" first="Carla" last="Marini">Carla Marini</name>
</country>
<country name="Danemark"><noRegion><name sortKey="Moller, Rikke S" sort="Moller, Rikke S" uniqKey="Moller R" first="Rikke S" last="Moller">Rikke S. Moller</name>
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</record>

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

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

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