Matches in SemOpenAlex for { <https://semopenalex.org/work/W2946302012> ?p ?o ?g. }
Showing items 1 to 99 of
99
with 100 items per page.
- W2946302012 abstract "Despite tremendous progress through next generation sequencing technologies, familial focal epilepsies are insufficiently understood. We sought to identify the genetic basis in multiplex Palestinian families with familial focal epilepsy with variable foci (FFEVF). Family I with 10 affected individuals and Family II with five affected individuals underwent detailed phenotyping over three generations. The phenotypic spectrum of the two families varied from nonlesional focal epilepsy including nocturnal frontal lobe epilepsy to severe structural epilepsy due to hemimegalencephaly. Whole-exome sequencing and single nucleotide polymorphism array analysis revealed pathogenic variants in NPRL3 in each family, a partial ~38-kb deletion encompassing eight exons (exons 8-15) and the 3'-untranslated region of the NPRL3 gene in Family I, and a de novo nonsense variant c.1063C>T, p.Gln355* in Family II. Furthermore, we identified a truncating variant in the PDCD10 gene in addition to the NPRL3 variant in a patient with focal epilepsy from Family I. The individual also had developmental delay and multiple cerebral cavernomas, possibly demonstrating a digenic contribution to the individual's phenotype. Our results implicate the association of NPRL3 with hemimegalencephaly, expanding the phenotypic spectrum of NPRL3 in FFEVF and underlining that partial deletions are part of the genotypic spectrum of NPRL3 variants." @default.
- W2946302012 created "2019-05-29" @default.
- W2946302012 creator A5005086594 @default.
- W2946302012 creator A5005472168 @default.
- W2946302012 creator A5012179877 @default.
- W2946302012 creator A5023695117 @default.
- W2946302012 creator A5027903196 @default.
- W2946302012 creator A5043619826 @default.
- W2946302012 creator A5054058984 @default.
- W2946302012 creator A5063658778 @default.
- W2946302012 creator A5078859010 @default.
- W2946302012 creator A5084514035 @default.
- W2946302012 date "2019-05-21" @default.
- W2946302012 modified "2023-10-16" @default.
- W2946302012 title "Inclusion of hemimegalencephaly into the phenotypic spectrum of <i> <scp>NPRL</scp> 3 </i> pathogenic variants in familial focal epilepsy with variable foci" @default.
- W2946302012 cites W1718812417 @default.
- W2946302012 cites W1939528805 @default.
- W2946302012 cites W1964320147 @default.
- W2946302012 cites W1980267588 @default.
- W2946302012 cites W2076446941 @default.
- W2946302012 cites W2094039324 @default.
- W2946302012 cites W2094517081 @default.
- W2946302012 cites W2121539587 @default.
- W2946302012 cites W2153577199 @default.
- W2946302012 cites W2215436807 @default.
- W2946302012 cites W2268666612 @default.
- W2946302012 cites W2285558878 @default.
- W2946302012 cites W2302804942 @default.
- W2946302012 cites W2381785560 @default.
- W2946302012 cites W2592509339 @default.
- W2946302012 cites W2594644573 @default.
- W2946302012 cites W2612091911 @default.
- W2946302012 cites W2885823448 @default.
- W2946302012 doi "https://doi.org/10.1111/epi.15665" @default.
- W2946302012 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31111464" @default.
- W2946302012 hasPublicationYear "2019" @default.
- W2946302012 type Work @default.
- W2946302012 sameAs 2946302012 @default.
- W2946302012 citedByCount "8" @default.
- W2946302012 countsByYear W29463020122021 @default.
- W2946302012 countsByYear W29463020122022 @default.
- W2946302012 countsByYear W29463020122023 @default.
- W2946302012 crossrefType "journal-article" @default.
- W2946302012 hasAuthorship W2946302012A5005086594 @default.
- W2946302012 hasAuthorship W2946302012A5005472168 @default.
- W2946302012 hasAuthorship W2946302012A5012179877 @default.
- W2946302012 hasAuthorship W2946302012A5023695117 @default.
- W2946302012 hasAuthorship W2946302012A5027903196 @default.
- W2946302012 hasAuthorship W2946302012A5043619826 @default.
- W2946302012 hasAuthorship W2946302012A5054058984 @default.
- W2946302012 hasAuthorship W2946302012A5063658778 @default.
- W2946302012 hasAuthorship W2946302012A5078859010 @default.
- W2946302012 hasAuthorship W2946302012A5084514035 @default.
- W2946302012 hasConcept C104317684 @default.
- W2946302012 hasConcept C120599132 @default.
- W2946302012 hasConcept C127716648 @default.
- W2946302012 hasConcept C135763542 @default.
- W2946302012 hasConcept C153209595 @default.
- W2946302012 hasConcept C16671776 @default.
- W2946302012 hasConcept C169760540 @default.
- W2946302012 hasConcept C2777060296 @default.
- W2946302012 hasConcept C2778186239 @default.
- W2946302012 hasConcept C2910338131 @default.
- W2946302012 hasConcept C36823959 @default.
- W2946302012 hasConcept C54355233 @default.
- W2946302012 hasConcept C86803240 @default.
- W2946302012 hasConceptScore W2946302012C104317684 @default.
- W2946302012 hasConceptScore W2946302012C120599132 @default.
- W2946302012 hasConceptScore W2946302012C127716648 @default.
- W2946302012 hasConceptScore W2946302012C135763542 @default.
- W2946302012 hasConceptScore W2946302012C153209595 @default.
- W2946302012 hasConceptScore W2946302012C16671776 @default.
- W2946302012 hasConceptScore W2946302012C169760540 @default.
- W2946302012 hasConceptScore W2946302012C2777060296 @default.
- W2946302012 hasConceptScore W2946302012C2778186239 @default.
- W2946302012 hasConceptScore W2946302012C2910338131 @default.
- W2946302012 hasConceptScore W2946302012C36823959 @default.
- W2946302012 hasConceptScore W2946302012C54355233 @default.
- W2946302012 hasConceptScore W2946302012C86803240 @default.
- W2946302012 hasIssue "6" @default.
- W2946302012 hasLocation W29463020121 @default.
- W2946302012 hasLocation W29463020122 @default.
- W2946302012 hasOpenAccess W2946302012 @default.
- W2946302012 hasPrimaryLocation W29463020121 @default.
- W2946302012 hasRelatedWork W1973431937 @default.
- W2946302012 hasRelatedWork W2004522315 @default.
- W2946302012 hasRelatedWork W2089212629 @default.
- W2946302012 hasRelatedWork W2128738807 @default.
- W2946302012 hasRelatedWork W2347029403 @default.
- W2946302012 hasRelatedWork W2362930325 @default.
- W2946302012 hasRelatedWork W2382088269 @default.
- W2946302012 hasRelatedWork W3004947290 @default.
- W2946302012 hasRelatedWork W3024030215 @default.
- W2946302012 hasRelatedWork W3197631011 @default.
- W2946302012 hasVolume "60" @default.
- W2946302012 isParatext "false" @default.
- W2946302012 isRetracted "false" @default.
- W2946302012 magId "2946302012" @default.
- W2946302012 workType "article" @default.