FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2023364584> ?p ?o ?g. }

• W2023364584 endingPage "E1975" @default.
• W2023364584 startingPage "E1959" @default.
• W2023364584 abstract "Mutations in PCDH19, encoding protocadherin 19 on chromosome X, cause familial epilepsy and mental retardation limited to females or Dravet-like syndrome. Heterozygous females are affected while hemizygous males are spared, this unusual mode of inheritance being probably due to a mechanism called cellular interference. To extend the mutational and clinical spectra associated with PCDH19, we screened 150 unrelated patients (113 females) with febrile and afebrile seizures for mutations or rearrangements in the gene. Fifteen novel point mutations were identified in 15 female patients (6 sporadic and 9 familial cases). In addition, qPCR revealed two whole gene deletions and one partial deletion in 3 sporadic female patients. Clinical features were highly variable but included almost constantly a high sensitivity to fever and clusters of brief seizures. Interestingly, cognitive functions were normal in several family members of 2 families: the familial condition in family 1 was suggestive of Generalized Epilepsy with Febrile Seizures Plus (GEFS+) whereas all three affected females had partial cryptogenic epilepsy. These results show that mutations in PCDH19 are a relatively frequent cause of epilepsy in females and should be considered even in absence of family history and/or mental retardation. © 2010 Wiley-Liss, Inc." @default.
• W2023364584 created "2016-06-24" @default.
• W2023364584 creator A5000530451 @default.
• W2023364584 creator A5007360924 @default.
• W2023364584 creator A5008350546 @default.
• W2023364584 creator A5020006642 @default.
• W2023364584 creator A5021064144 @default.
• W2023364584 creator A5023778362 @default.
• W2023364584 creator A5023902959 @default.
• W2023364584 creator A5023979646 @default.
• W2023364584 creator A5024436821 @default.
• W2023364584 creator A5026864645 @default.
• W2023364584 creator A5032546678 @default.
• W2023364584 creator A5035399856 @default.
• W2023364584 creator A5035948297 @default.
• W2023364584 creator A5036547394 @default.
• W2023364584 creator A5048565945 @default.
• W2023364584 creator A5049933907 @default.
• W2023364584 creator A5064783310 @default.
• W2023364584 creator A5066049667 @default.
• W2023364584 creator A5066904892 @default.
• W2023364584 creator A5067649737 @default.
• W2023364584 creator A5070118171 @default.
• W2023364584 creator A5075161655 @default.
• W2023364584 creator A5076280857 @default.
• W2023364584 creator A5080147299 @default.
• W2023364584 creator A5082546919 @default.
• W2023364584 creator A5088189537 @default.
• W2023364584 date "2010-11-04" @default.
• W2023364584 modified "2023-10-18" @default.
• W2023364584 title "Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females" @default.
• W2023364584 cites W1500569882 @default.
• W2023364584 cites W2059970788 @default.
• W2023364584 doi "https://doi.org/10.1002/humu.21373" @default.
• W2023364584 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3033517" @default.
• W2023364584 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21053371" @default.
• W2023364584 hasPublicationYear "2010" @default.
• W2023364584 type Work @default.
• W2023364584 sameAs 2023364584 @default.
• W2023364584 citedByCount "109" @default.
• W2023364584 countsByYear W20233645842012 @default.
• W2023364584 countsByYear W20233645842013 @default.
• W2023364584 countsByYear W20233645842014 @default.
• W2023364584 countsByYear W20233645842015 @default.
• W2023364584 countsByYear W20233645842016 @default.
• W2023364584 countsByYear W20233645842017 @default.
• W2023364584 countsByYear W20233645842018 @default.
• W2023364584 countsByYear W20233645842019 @default.
• W2023364584 countsByYear W20233645842020 @default.
• W2023364584 countsByYear W20233645842021 @default.
• W2023364584 countsByYear W20233645842022 @default.
• W2023364584 countsByYear W20233645842023 @default.
• W2023364584 crossrefType "journal-article" @default.
• W2023364584 hasAuthorship W2023364584A5000530451 @default.
• W2023364584 hasAuthorship W2023364584A5007360924 @default.
• W2023364584 hasAuthorship W2023364584A5008350546 @default.
• W2023364584 hasAuthorship W2023364584A5020006642 @default.
• W2023364584 hasAuthorship W2023364584A5021064144 @default.
• W2023364584 hasAuthorship W2023364584A5023778362 @default.
• W2023364584 hasAuthorship W2023364584A5023902959 @default.
• W2023364584 hasAuthorship W2023364584A5023979646 @default.
• W2023364584 hasAuthorship W2023364584A5024436821 @default.
• W2023364584 hasAuthorship W2023364584A5026864645 @default.
• W2023364584 hasAuthorship W2023364584A5032546678 @default.
• W2023364584 hasAuthorship W2023364584A5035399856 @default.
• W2023364584 hasAuthorship W2023364584A5035948297 @default.
• W2023364584 hasAuthorship W2023364584A5036547394 @default.
• W2023364584 hasAuthorship W2023364584A5048565945 @default.
• W2023364584 hasAuthorship W2023364584A5049933907 @default.
• W2023364584 hasAuthorship W2023364584A5064783310 @default.
• W2023364584 hasAuthorship W2023364584A5066049667 @default.
• W2023364584 hasAuthorship W2023364584A5066904892 @default.
• W2023364584 hasAuthorship W2023364584A5067649737 @default.
• W2023364584 hasAuthorship W2023364584A5070118171 @default.
• W2023364584 hasAuthorship W2023364584A5075161655 @default.
• W2023364584 hasAuthorship W2023364584A5076280857 @default.
• W2023364584 hasAuthorship W2023364584A5080147299 @default.
• W2023364584 hasAuthorship W2023364584A5082546919 @default.
• W2023364584 hasAuthorship W2023364584A5088189537 @default.
• W2023364584 hasBestOaLocation W20233645841 @default.
• W2023364584 hasConcept C104317684 @default.
• W2023364584 hasConcept C126322002 @default.
• W2023364584 hasConcept C1491633281 @default.
• W2023364584 hasConcept C149402561 @default.
• W2023364584 hasConcept C163911330 @default.
• W2023364584 hasConcept C169760540 @default.
• W2023364584 hasConcept C2778186239 @default.
• W2023364584 hasConcept C2780623815 @default.
• W2023364584 hasConcept C2781179581 @default.
• W2023364584 hasConcept C501734568 @default.
• W2023364584 hasConcept C54355233 @default.
• W2023364584 hasConcept C71924100 @default.
• W2023364584 hasConcept C86803240 @default.
• W2023364584 hasConceptScore W2023364584C104317684 @default.
• W2023364584 hasConceptScore W2023364584C126322002 @default.
• W2023364584 hasConceptScore W2023364584C1491633281 @default.
• W2023364584 hasConceptScore W2023364584C149402561 @default.
• W2023364584 hasConceptScore W2023364584C163911330 @default.

• next