FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3150790461> ?p ?o ?g. }

• W3150790461 endingPage "738" @default.
• W3150790461 startingPage "722" @default.
• W3150790461 abstract "Progressive myoclonus epilepsies (PMEs) comprise a group of clinically and genetically heterogeneous rare diseases. Over 70% of PME cases can now be molecularly solved. Known PME genes encode a variety of proteins, many involved in lysosomal and endosomal function. We performed whole-exome sequencing (WES) in 84 (78 unrelated) unsolved PME-affected individuals, with or without additional family members, to discover novel causes. We identified likely disease-causing variants in 24 out of 78 (31%) unrelated individuals, despite previous genetic analyses. The diagnostic yield was significantly higher for individuals studied as trios or families (14/28) versus singletons (10/50) (OR = 3.9, p value = 0.01, Fisher’s exact test). The 24 likely solved cases of PME involved 18 genes. First, we found and functionally validated five heterozygous variants in NUS1 and DHDDS and a homozygous variant in ALG10, with no previous disease associations. All three genes are involved in dolichol-dependent protein glycosylation, a pathway not previously implicated in PME. Second, we independently validate SEMA6B as a dominant PME gene in two unrelated individuals. Third, in five families, we identified variants in established PME genes; three with intronic or copy-number changes (CLN6, GBA, NEU1) and two very rare causes (ASAH1, CERS1). Fourth, we found a group of genes usually associated with developmental and epileptic encephalopathies, but here, remarkably, presenting as PME, with or without prior developmental delay. Our systematic analysis of these cases suggests that the small residuum of unsolved cases will most likely be a collection of very rare, genetically heterogeneous etiologies." @default.
• W3150790461 created "2021-04-13" @default.
• W3150790461 creator A5007494860 @default.
• W3150790461 creator A5008508884 @default.
• W3150790461 creator A5008603231 @default.
• W3150790461 creator A5015741749 @default.
• W3150790461 creator A5019471332 @default.
• W3150790461 creator A5021396407 @default.
• W3150790461 creator A5022338092 @default.
• W3150790461 creator A5022886141 @default.
• W3150790461 creator A5023695117 @default.
• W3150790461 creator A5024369427 @default.
• W3150790461 creator A5025475711 @default.
• W3150790461 creator A5028855582 @default.
• W3150790461 creator A5029538655 @default.
• W3150790461 creator A5033623125 @default.
• W3150790461 creator A5041159807 @default.
• W3150790461 creator A5042139580 @default.
• W3150790461 creator A5042806203 @default.
• W3150790461 creator A5043017488 @default.
• W3150790461 creator A5043644450 @default.
• W3150790461 creator A5043690576 @default.
• W3150790461 creator A5044649471 @default.
• W3150790461 creator A5046089021 @default.
• W3150790461 creator A5048792850 @default.
• W3150790461 creator A5052634729 @default.
• W3150790461 creator A5054067653 @default.
• W3150790461 creator A5057518682 @default.
• W3150790461 creator A5058634879 @default.
• W3150790461 creator A5061764650 @default.
• W3150790461 creator A5070424111 @default.
• W3150790461 creator A5072063739 @default.
• W3150790461 creator A5073243232 @default.
• W3150790461 creator A5079430472 @default.
• W3150790461 creator A5082771010 @default.
• W3150790461 creator A5084088438 @default.
• W3150790461 creator A5084959768 @default.
• W3150790461 creator A5085708490 @default.
• W3150790461 creator A5087512489 @default.
• W3150790461 creator A5087759052 @default.
• W3150790461 creator A5088309302 @default.
• W3150790461 date "2021-04-01" @default.
• W3150790461 modified "2023-10-15" @default.
• W3150790461 title "Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes" @default.
• W3150790461 cites W1830891822 @default.
• W3150790461 cites W1963580438 @default.
• W3150790461 cites W1973421354 @default.
• W3150790461 cites W1977997956 @default.
• W3150790461 cites W1992253341 @default.
• W3150790461 cites W2014425544 @default.
• W3150790461 cites W2014700016 @default.
• W3150790461 cites W2014747001 @default.
• W3150790461 cites W2015937726 @default.
• W3150790461 cites W2017076588 @default.
• W3150790461 cites W2020579700 @default.
• W3150790461 cites W2022194569 @default.
• W3150790461 cites W2022891079 @default.
• W3150790461 cites W2026050615 @default.
• W3150790461 cites W2032019813 @default.
• W3150790461 cites W2042125331 @default.
• W3150790461 cites W2051978340 @default.
• W3150790461 cites W2059145105 @default.
• W3150790461 cites W2063075178 @default.
• W3150790461 cites W2071555342 @default.
• W3150790461 cites W2077276315 @default.
• W3150790461 cites W2118598201 @default.
• W3150790461 cites W2120767159 @default.
• W3150790461 cites W2123767649 @default.
• W3150790461 cites W2129594231 @default.
• W3150790461 cites W2132123037 @default.
• W3150790461 cites W2137886330 @default.
• W3150790461 cites W2138788991 @default.
• W3150790461 cites W2153282442 @default.
• W3150790461 cites W2154467573 @default.
• W3150790461 cites W2156561022 @default.
• W3150790461 cites W2159392587 @default.
• W3150790461 cites W2337209831 @default.
• W3150790461 cites W2415622914 @default.
• W3150790461 cites W2417483443 @default.
• W3150790461 cites W2462104816 @default.
• W3150790461 cites W2472606679 @default.
• W3150790461 cites W2506784803 @default.
• W3150790461 cites W2586994065 @default.
• W3150790461 cites W2604972317 @default.
• W3150790461 cites W2613432108 @default.
• W3150790461 cites W2742600815 @default.
• W3150790461 cites W2748233840 @default.
• W3150790461 cites W2766662494 @default.
• W3150790461 cites W2790182135 @default.
• W3150790461 cites W2794565736 @default.
• W3150790461 cites W2895997008 @default.
• W3150790461 cites W2896915337 @default.
• W3150790461 cites W2902005673 @default.
• W3150790461 cites W2905452503 @default.
• W3150790461 cites W2909597573 @default.
• W3150790461 cites W2949838248 @default.
• W3150790461 cites W2955455775 @default.
• W3150790461 cites W2974156653 @default.

• next