Matches in SemOpenAlex for { <https://semopenalex.org/work/W2806450489> ?p ?o ?g. }
- W2806450489 endingPage "251" @default.
- W2806450489 startingPage "241" @default.
- W2806450489 abstract "Epilepsy 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." @default.
- W2806450489 created "2018-06-13" @default.
- W2806450489 creator A5004461693 @default.
- W2806450489 creator A5004817854 @default.
- W2806450489 creator A5016228050 @default.
- W2806450489 creator A5023392818 @default.
- W2806450489 creator A5041159807 @default.
- W2806450489 creator A5047440914 @default.
- W2806450489 creator A5090401646 @default.
- W2806450489 date "2018-06-11" @default.
- W2806450489 modified "2023-10-15" @default.
- W2806450489 title "A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity" @default.
- W2806450489 cites W1556572204 @default.
- W2806450489 cites W1558256173 @default.
- W2806450489 cites W1896231193 @default.
- W2806450489 cites W1968048563 @default.
- W2806450489 cites W1970325005 @default.
- W2806450489 cites W1974996943 @default.
- W2806450489 cites W1976755449 @default.
- W2806450489 cites W2002554509 @default.
- W2806450489 cites W2003639456 @default.
- W2806450489 cites W2006643749 @default.
- W2806450489 cites W2011465123 @default.
- W2806450489 cites W2017135917 @default.
- W2806450489 cites W2018077021 @default.
- W2806450489 cites W2018710502 @default.
- W2806450489 cites W2023364584 @default.
- W2806450489 cites W2027536256 @default.
- W2806450489 cites W2032997387 @default.
- W2806450489 cites W2034559806 @default.
- W2806450489 cites W2053479268 @default.
- W2806450489 cites W2061608089 @default.
- W2806450489 cites W2064136918 @default.
- W2806450489 cites W2066073124 @default.
- W2806450489 cites W2067826825 @default.
- W2806450489 cites W2068229295 @default.
- W2806450489 cites W2074682822 @default.
- W2806450489 cites W2075888518 @default.
- W2806450489 cites W2088880225 @default.
- W2806450489 cites W2118923294 @default.
- W2806450489 cites W2119886969 @default.
- W2806450489 cites W2120095635 @default.
- W2806450489 cites W2121780721 @default.
- W2806450489 cites W2124969702 @default.
- W2806450489 cites W2130171725 @default.
- W2806450489 cites W2131518256 @default.
- W2806450489 cites W2134973729 @default.
- W2806450489 cites W2137381964 @default.
- W2806450489 cites W2140968331 @default.
- W2806450489 cites W2144236040 @default.
- W2806450489 cites W2152231606 @default.
- W2806450489 cites W2155532823 @default.
- W2806450489 cites W2235837601 @default.
- W2806450489 cites W2306461585 @default.
- W2806450489 cites W2380424457 @default.
- W2806450489 cites W2462566570 @default.
- W2806450489 cites W2516769184 @default.
- W2806450489 cites W2588385748 @default.
- W2806450489 cites W2595066528 @default.
- W2806450489 cites W2605404769 @default.
- W2806450489 cites W2610401377 @default.
- W2806450489 cites W2727064855 @default.
- W2806450489 cites W2735314073 @default.
- W2806450489 cites W2745227041 @default.
- W2806450489 cites W2750540167 @default.
- W2806450489 cites W2763605737 @default.
- W2806450489 cites W4247665917 @default.
- W2806450489 cites W75148484 @default.
- W2806450489 doi "https://doi.org/10.1038/s41380-018-0066-9" @default.
- W2806450489 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6344372" @default.
- W2806450489 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29892053" @default.
- W2806450489 hasPublicationYear "2018" @default.
- W2806450489 type Work @default.
- W2806450489 sameAs 2806450489 @default.
- W2806450489 citedByCount "73" @default.
- W2806450489 countsByYear W28064504892019 @default.
- W2806450489 countsByYear W28064504892020 @default.
- W2806450489 countsByYear W28064504892021 @default.
- W2806450489 countsByYear W28064504892022 @default.
- W2806450489 countsByYear W28064504892023 @default.
- W2806450489 crossrefType "journal-article" @default.
- W2806450489 hasAuthorship W2806450489A5004461693 @default.
- W2806450489 hasAuthorship W2806450489A5004817854 @default.
- W2806450489 hasAuthorship W2806450489A5016228050 @default.
- W2806450489 hasAuthorship W2806450489A5023392818 @default.
- W2806450489 hasAuthorship W2806450489A5041159807 @default.
- W2806450489 hasAuthorship W2806450489A5047440914 @default.
- W2806450489 hasAuthorship W2806450489A5090401646 @default.
- W2806450489 hasBestOaLocation W28064504891 @default.
- W2806450489 hasConcept C118552586 @default.
- W2806450489 hasConcept C126322002 @default.
- W2806450489 hasConcept C15744967 @default.
- W2806450489 hasConcept C205778803 @default.
- W2806450489 hasConcept C2777767895 @default.
- W2806450489 hasConcept C2778186239 @default.
- W2806450489 hasConcept C2779134260 @default.
- W2806450489 hasConcept C551499885 @default.
- W2806450489 hasConcept C71924100 @default.