FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2891792721> ?p ?o ?g. }

• W2891792721 endingPage "849" @default.
• W2891792721 startingPage "837" @default.
• W2891792721 abstract "Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants. We compared variant types and phenotypes in males and females and performed an analysis of IQSEC2 isoforms.IQSEC2 pathogenic variants mainly led to premature truncation and were scattered throughout the longest brain-specific isoform, encoding the synaptic IQSEC2/BRAG1 protein. Variants occurred de novo in females but were either de novo (2/3) or inherited (1/3) in males, with missense variants being predominantly inherited. Developmental delay and intellectual disability were overall more severe in males than in females. Likewise, seizures were more frequently observed and intractable, and started earlier in males than in females. No correlation was observed between the age at seizure onset and severity of intellectual disability or resistance to antiepileptic treatments.This study provides a comprehensive overview of IQSEC2-related encephalopathy in males and females, and suggests that an accurate dosage of IQSEC2 at the synapse is crucial during normal brain development." @default.
• W2891792721 created "2018-09-27" @default.
• W2891792721 creator A5000530451 @default.
• W2891792721 creator A5000908626 @default.
• W2891792721 creator A5004966333 @default.
• W2891792721 creator A5004990070 @default.
• W2891792721 creator A5007008333 @default.
• W2891792721 creator A5008350546 @default.
• W2891792721 creator A5008944813 @default.
• W2891792721 creator A5011993734 @default.
• W2891792721 creator A5013841417 @default.
• W2891792721 creator A5014090979 @default.
• W2891792721 creator A5014095748 @default.
• W2891792721 creator A5015087738 @default.
• W2891792721 creator A5017749408 @default.
• W2891792721 creator A5019044095 @default.
• W2891792721 creator A5019849501 @default.
• W2891792721 creator A5020006642 @default.
• W2891792721 creator A5020043805 @default.
• W2891792721 creator A5021236267 @default.
• W2891792721 creator A5023687607 @default.
• W2891792721 creator A5024352622 @default.
• W2891792721 creator A5024518420 @default.
• W2891792721 creator A5026390789 @default.
• W2891792721 creator A5028007582 @default.
• W2891792721 creator A5028894460 @default.
• W2891792721 creator A5029002217 @default.
• W2891792721 creator A5029024659 @default.
• W2891792721 creator A5029166444 @default.
• W2891792721 creator A5029940812 @default.
• W2891792721 creator A5030412206 @default.
• W2891792721 creator A5031363846 @default.
• W2891792721 creator A5031846822 @default.
• W2891792721 creator A5032248849 @default.
• W2891792721 creator A5032546809 @default.
• W2891792721 creator A5033490900 @default.
• W2891792721 creator A5034171757 @default.
• W2891792721 creator A5034697392 @default.
• W2891792721 creator A5036703956 @default.
• W2891792721 creator A5036998390 @default.
• W2891792721 creator A5040994744 @default.
• W2891792721 creator A5042119200 @default.
• W2891792721 creator A5042192466 @default.
• W2891792721 creator A5043773229 @default.
• W2891792721 creator A5044485609 @default.
• W2891792721 creator A5044822605 @default.
• W2891792721 creator A5045972001 @default.
• W2891792721 creator A5046207785 @default.
• W2891792721 creator A5047269523 @default.
• W2891792721 creator A5047404331 @default.
• W2891792721 creator A5049933907 @default.
• W2891792721 creator A5050107765 @default.
• W2891792721 creator A5051172319 @default.
• W2891792721 creator A5054136534 @default.
• W2891792721 creator A5055560807 @default.
• W2891792721 creator A5057582530 @default.
• W2891792721 creator A5058389671 @default.
• W2891792721 creator A5059430455 @default.
• W2891792721 creator A5061980476 @default.
• W2891792721 creator A5062097018 @default.
• W2891792721 creator A5064898000 @default.
• W2891792721 creator A5065548829 @default.
• W2891792721 creator A5069794634 @default.
• W2891792721 creator A5069825286 @default.
• W2891792721 creator A5071894755 @default.
• W2891792721 creator A5072868409 @default.
• W2891792721 creator A5072893527 @default.
• W2891792721 creator A5073354779 @default.
• W2891792721 creator A5073896215 @default.
• W2891792721 creator A5074100712 @default.
• W2891792721 creator A5074813917 @default.
• W2891792721 creator A5075161655 @default.
• W2891792721 creator A5075480563 @default.
• W2891792721 creator A5076552413 @default.
• W2891792721 creator A5078387575 @default.
• W2891792721 creator A5078576415 @default.
• W2891792721 creator A5080461848 @default.
• W2891792721 creator A5081597806 @default.
• W2891792721 creator A5082961755 @default.
• W2891792721 creator A5083575875 @default.
• W2891792721 creator A5084864179 @default.
• W2891792721 creator A5085657805 @default.
• W2891792721 creator A5087420706 @default.
• W2891792721 creator A5088903817 @default.
• W2891792721 creator A5089322744 @default.
• W2891792721 creator A5089897001 @default.
• W2891792721 creator A5090770332 @default.
• W2891792721 creator A5034404658 @default.
• W2891792721 date "2019-04-01" @default.
• W2891792721 modified "2023-10-18" @default.
• W2891792721 title "IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients" @default.
• W2891792721 cites W1512591645 @default.
• W2891792721 cites W1749057191 @default.
• W2891792721 cites W1975199185 @default.
• W2891792721 cites W1981606744 @default.
• W2891792721 cites W2007228767 @default.
• W2891792721 cites W2007942788 @default.
• W2891792721 cites W2020958409 @default.

• next