Please use this identifier to cite or link to this item:
Full metadata record
DC FieldValueLanguage
dc.contributor.authorKolc, Kristy L-
dc.contributor.authorSadleir, Lynette G-
dc.contributor.authorScheffer, Ingrid E-
dc.contributor.authorIvancevic, Atma-
dc.contributor.authorRoberts, Rachel-
dc.contributor.authorPham, Duyen H-
dc.contributor.authorGecz, Jozef-
dc.identifier.citationMolecular psychiatry 2019; 24(2): 241-251-
dc.description.abstractEpilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical and molecular factors with neuropsychiatric outcomes. Data were extracted from 38 peer-reviewed original articles including 271 individual cases. We found that seizure onset ≤12 months was significantly associated (p = 4.127 × 10-7) with more severe intellectual disability, compared with onset >12 months. We identified two recurrent variants p.Asn340Ser and p.Tyr366Leufs*10 occurring in 25 (20 unrelated) and 30 (11 unrelated) cases, respectively. PCDH19 mutations were associated with psychiatric comorbidities in approximately 60% of females, 80% of affected mosaic males, and reported in nine hemizygous males. Hyperactive, autistic, and obsessive-compulsive features were most frequently reported. There were no genotype-phenotype associations in the individuals with recurrent variants or the group overall. Age at seizure onset can be used to provide more informative prognostic counseling.-
dc.titleA systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.-
dc.typeJournal Article-
dc.identifier.journaltitleMolecular psychiatry-
dc.identifier.affiliationRobinson Research Institute, The University of Adelaide, Adelaide, SA, Australiaen
dc.identifier.affiliationDepartment of Paediatrics and Child Health, University of Otago, Wellington, New Zealand-
dc.identifier.affiliationDepartment of Medicine, Austin Health, The University of Melbourne, Heidelberg, Victoria, Australia-
dc.identifier.affiliationAdelaide Medical School, The University of Adelaide, Adelaide, SA, Australia-
dc.identifier.affiliationSchool of Psychology, The University of Adelaide, Adelaide, SA, Australia-
dc.identifier.affiliationHealthy Mothers and Babies, South Australian Health and Medical Research Institute, Adelaide, SA, Australia-
dc.identifier.affiliationDepartment of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, Victoria, Australia-
dc.identifier.affiliationThe Florey Institute of Neuroscience and Mental Health, Heidelberg, Victoria, Australia-
dc.type.austinJournal Article-
item.fulltextNo Fulltext-
item.openairetypeJournal Article- Research Centre-
Appears in Collections:Journal articles
Show simple item record

Page view(s)

checked on Feb 5, 2023

Google ScholarTM


Items in AHRO are protected by copyright, with all rights reserved, unless otherwise indicated.