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

Human Molecular Genetics

Volumn 24, Issue 18, 2015, Pages 5250-5259

  Tan, Chuan ^a   Shard, Chloe ^b   Ranieri, Enzo ^c   Hynes, Kim ^a   Pham, Duyen H ^a   Leach, Damian ^d   Buchanan, Grant ^d   Corbett, Mark ^a   Shoubridge, Cheryl ^a   Kumar, Raman ^a   Douglas, Evelyn ^c   Nguyen, Lam S ^a,e   Mcmahon, Jacinta ^f   Sadleir, Lynette ^g   Specchio, Nicola ^h   Marini, Carla ⁱ   Guerrini, Renzo ⁱ   Moller, Rikke S ^j,k   Depienne, Christel ^l,m   Haan, Eric ^a,n   Thomas, Paul Q ^b   Berkovic, Samuel F ^f,o   Scheffer, Ingrid E ^f,o   Gecz, Jozef ^a,b,c   more..

^a UNIVERSITY OF ADELAIDE   (Australia)

^b UNIVERSITY OF ADELAIDE   (Australia)

^c SA Pathology   (Australia)

^d QUEEN ELIZABETH HOSPITAL   (Australia)

^e INSERM   (France)

^f UNIVERSITY OF MELBOURNE   (Australia)

^g UNIVERSITY OF OTAGO   (New Zealand)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ UNIVERSITY OF FLORENCE   (Italy)

^j DANISH EPILEPSY CENTRE   (Denmark)

^k UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^l SORBONNE UNIVERSITÉ   (France)

^m PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

ⁿ South Australian Clinical Genetics Service   (Australia)

^o FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3ALPHA HYDROXY 5ALPHA PREGNAN 20 ONE; ALDO KETO REDUCTASE 1C 2; ALDO KETO REDUCTASE 1C 3; CADHERIN; ESTRADIOL; NEUROSTEROID; OXIDOREDUCTASE; PROTOCADHERIN 19; UNCLASSIFIED DRUG; 15 HYDROXYPROSTAGLANDIN DEHYDROGENASE; 3(OR 17)BETA HYDROXYSTEROID DEHYDROGENASE; AKR1C3 PROTEIN, HUMAN; ELTANOLONE; PCDH19 PROTEIN, HUMAN;

ADULT; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN REGULATION; EPILEPSY; FEMALE; GENE CONTROL; GENE EXPRESSION; GENE MUTATION; GESTAGEN BLOOD LEVEL; HORMONE DEFICIENCY; HUMAN; HUMAN CELL; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MENTAL DEFICIENCY; MIDDLE AGED; MOSAICISM; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; UPREGULATION; YOUNG ADULT; ADOLESCENT; BLOOD; CLUSTER ANALYSIS; DEFICIENCY; FIBROBLAST; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE REGULATORY NETWORK; GENETICS; METABOLISM; MUTATION; NEWBORN; ONSET AGE; PHENOTYPE; PRESCHOOL CHILD; REPRODUCIBILITY; SIGNAL TRANSDUCTION;

3-HYDROXYSTEROID DEHYDROGENASES; ADOLESCENT; ADULT; AGE OF ONSET; CADHERINS; CHILD; CHILD, PRESCHOOL; CLUSTER ANALYSIS; EPILEPSY; FEMALE; FIBROBLASTS; GENE EXPRESSION PROFILING; GENE EXPRESSION REGULATION; GENE REGULATORY NETWORKS; HUMANS; HYDROXYPROSTAGLANDIN DEHYDROGENASES; INFANT; INFANT, NEWBORN; INTELLECTUAL DISABILITY; MIDDLE AGED; MUTATION; PHENOTYPE; PREGNANOLONE; REPRODUCIBILITY OF RESULTS; SIGNAL TRANSDUCTION; YOUNG ADULT;

EID: 84939538802     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv245     Document Type: Article

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