FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3140619982> ?p ?o ?g. }

• W3140619982 abstract "RYR2 encodes ryanodine receptor 2 protein (RYR-2) that is mainly located on endoplasmic reticulum membrane and regulates intracellular calcium concentration. The RYR-2 protein is ubiquitously distributed and highly expressed in the heart and brain. Previous studies have identified the RYR2 mutations in the etiology of arrhythmogenic right ventricular dysplasia 2 and catecholaminergic polymorphic ventricular tachycardia. However, the relationship between RYR2 gene and epilepsy is not determined. In this study, we screened for novel genetic variants in a group of 292 cases (families) with benign epilepsy of childhood with centrotemporal spikes (BECTS) by trio-based whole-exome sequencing. RYR2 mutations were identified in five cases with BECTS, including one heterozygous frameshift mutation (c.14361dup/p.Arg4790Pro fs ∗ 6), two heterozygous missense mutations (c.2353G &gt; A/p.Asp785Asn and c.8574G &gt; A/p.Met2858Ile), and two pairs of compound heterozygous mutations (c.4652A &gt; G/p.Asn1551Ser and c.11693T &gt; C/p.Ile3898Thr, c.7469T &gt; C/p.Val2490Ala and c.12770G &gt; A/p.Arg4257Gln, respectively). Asp785Asn was a de novo missense mutation. All the missense mutations were suggested to be damaging by at least three web-based prediction tools. These mutations do not present or at low minor allele frequency in gnomAD database and present statistically higher frequency in the cohort of BECTS than in the control populations of gnomAD. Asp785Asn, Asn1551Ser, and Ile3898Thr were predicted to affect hydrogen bonds with surrounding amino acids. Three affected individuals had arrhythmia (sinus arrhythmia and occasional atrial premature). The two probands with compound heterozygous missense mutations presented mild cardiac structural abnormalities. Strong evidence from ClinGen Clinical Validity Framework suggested an association between RYR2 variants and epilepsy. This study suggests that RYR2 gene is potentially a candidate pathogenic gene of BECTS. More attention should be paid to epilepsy patients with RYR2 mutations, which were associated with arrhythmia and sudden unexpected death in previous reports." @default.
• W3140619982 created "2021-04-13" @default.
• W3140619982 creator A5004869156 @default.
• W3140619982 creator A5015514709 @default.
• W3140619982 creator A5029695887 @default.
• W3140619982 creator A5031503063 @default.
• W3140619982 creator A5048293007 @default.
• W3140619982 creator A5052200902 @default.
• W3140619982 creator A5067365053 @default.
• W3140619982 creator A5075877965 @default.
• W3140619982 creator A5078604893 @default.
• W3140619982 creator A5084303485 @default.
• W3140619982 creator A5089832612 @default.
• W3140619982 date "2021-04-07" @default.
• W3140619982 modified "2023-10-13" @default.
• W3140619982 title "RYR2 Mutations Are Associated With Benign Epilepsy of Childhood With Centrotemporal Spikes With or Without Arrhythmia" @default.
• W3140619982 cites W12635643 @default.
• W3140619982 cites W1486265241 @default.
• W3140619982 cites W1627352250 @default.
• W3140619982 cites W1965869341 @default.
• W3140619982 cites W1978370793 @default.
• W3140619982 cites W1986582983 @default.
• W3140619982 cites W1996426136 @default.
• W3140619982 cites W2022585930 @default.
• W3140619982 cites W2053430609 @default.
• W3140619982 cites W2060585868 @default.
• W3140619982 cites W2087116178 @default.
• W3140619982 cites W2104972295 @default.
• W3140619982 cites W2108433180 @default.
• W3140619982 cites W2116635624 @default.
• W3140619982 cites W2134544862 @default.
• W3140619982 cites W2140313980 @default.
• W3140619982 cites W2172993186 @default.
• W3140619982 cites W2201284016 @default.
• W3140619982 cites W2345316450 @default.
• W3140619982 cites W2357379286 @default.
• W3140619982 cites W2487013333 @default.
• W3140619982 cites W2518901523 @default.
• W3140619982 cites W2532406731 @default.
• W3140619982 cites W2560344182 @default.
• W3140619982 cites W2764277089 @default.
• W3140619982 cites W2767578677 @default.
• W3140619982 cites W2777385409 @default.
• W3140619982 cites W2794845581 @default.
• W3140619982 cites W2802498898 @default.
• W3140619982 cites W2915320829 @default.
• W3140619982 cites W2951101345 @default.
• W3140619982 cites W2969286394 @default.
• W3140619982 cites W2986518614 @default.
• W3140619982 cites W3008357486 @default.
• W3140619982 cites W3035263905 @default.
• W3140619982 doi "https://doi.org/10.3389/fnins.2021.629610" @default.
• W3140619982 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/8058200" @default.
• W3140619982 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33897349" @default.
• W3140619982 hasPublicationYear "2021" @default.
• W3140619982 type Work @default.
• W3140619982 sameAs 3140619982 @default.
• W3140619982 citedByCount "13" @default.
• W3140619982 countsByYear W31406199822022 @default.
• W3140619982 countsByYear W31406199822023 @default.
• W3140619982 crossrefType "journal-article" @default.
• W3140619982 hasAuthorship W3140619982A5004869156 @default.
• W3140619982 hasAuthorship W3140619982A5015514709 @default.
• W3140619982 hasAuthorship W3140619982A5029695887 @default.
• W3140619982 hasAuthorship W3140619982A5031503063 @default.
• W3140619982 hasAuthorship W3140619982A5048293007 @default.
• W3140619982 hasAuthorship W3140619982A5052200902 @default.
• W3140619982 hasAuthorship W3140619982A5067365053 @default.
• W3140619982 hasAuthorship W3140619982A5075877965 @default.
• W3140619982 hasAuthorship W3140619982A5078604893 @default.
• W3140619982 hasAuthorship W3140619982A5084303485 @default.
• W3140619982 hasAuthorship W3140619982A5089832612 @default.
• W3140619982 hasBestOaLocation W31406199821 @default.
• W3140619982 hasConcept C104317684 @default.
• W3140619982 hasConcept C10590036 @default.
• W3140619982 hasConcept C113217602 @default.
• W3140619982 hasConcept C12125453 @default.
• W3140619982 hasConcept C126322002 @default.
• W3140619982 hasConcept C134018914 @default.
• W3140619982 hasConcept C158617107 @default.
• W3140619982 hasConcept C16671776 @default.
• W3140619982 hasConcept C169760540 @default.
• W3140619982 hasConcept C180754005 @default.
• W3140619982 hasConcept C190712762 @default.
• W3140619982 hasConcept C2778178275 @default.
• W3140619982 hasConcept C2778186239 @default.
• W3140619982 hasConcept C37463918 @default.
• W3140619982 hasConcept C501734568 @default.
• W3140619982 hasConcept C54355233 @default.
• W3140619982 hasConcept C71924100 @default.
• W3140619982 hasConcept C75563809 @default.
• W3140619982 hasConcept C86803240 @default.
• W3140619982 hasConceptScore W3140619982C104317684 @default.
• W3140619982 hasConceptScore W3140619982C10590036 @default.
• W3140619982 hasConceptScore W3140619982C113217602 @default.
• W3140619982 hasConceptScore W3140619982C12125453 @default.
• W3140619982 hasConceptScore W3140619982C126322002 @default.
• W3140619982 hasConceptScore W3140619982C134018914 @default.
• W3140619982 hasConceptScore W3140619982C158617107 @default.
• W3140619982 hasConceptScore W3140619982C16671776 @default.

• next