Matches in SemOpenAlex for { <https://semopenalex.org/work/W3149623008> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W3149623008 endingPage "73" @default.
- W3149623008 startingPage "67" @default.
- W3149623008 abstract "The SLC25A22 (Solute Carrier Family 25, Member 22) gene encodes for a mitochondrial glutamate/H+ symporter and is involved in the mitochondrial transport of metabolites across the mitochondrial membrane. We hereby report a 12-year-old girl presenting with early-onset epileptic encephalopathy, hypotonia, and global developmental delay. Whole exome sequencing identified a novel homozygous missense mutation in SLC25A22 gene (c.97A>G; p.Lys33Glu), as the likely cause of the disease. The phenotype of our patient and EEG recordings do not completely overlap with the phenotypes previously described, leading to a new and more complex form of disease associated with SLC25A22 variants, characterized by dyskinetic movements and oculogyric crisis." @default.
- W3149623008 created "2021-04-13" @default.
- W3149623008 creator A5004930517 @default.
- W3149623008 creator A5013253150 @default.
- W3149623008 creator A5027430673 @default.
- W3149623008 creator A5031512829 @default.
- W3149623008 creator A5044623890 @default.
- W3149623008 creator A5046363321 @default.
- W3149623008 creator A5046495281 @default.
- W3149623008 creator A5051664216 @default.
- W3149623008 creator A5079257891 @default.
- W3149623008 creator A5084271839 @default.
- W3149623008 date "2021-04-03" @default.
- W3149623008 modified "2023-10-16" @default.
- W3149623008 title "De novo mutation in <i>SLC25A22</i> gene: expansion of the clinical and electroencephalographic phenotype" @default.
- W3149623008 cites W1983666695 @default.
- W3149623008 cites W1990036972 @default.
- W3149623008 cites W2009332562 @default.
- W3149623008 cites W2009914041 @default.
- W3149623008 cites W2030548279 @default.
- W3149623008 cites W2103092890 @default.
- W3149623008 cites W2103407341 @default.
- W3149623008 cites W2111528698 @default.
- W3149623008 cites W2116159807 @default.
- W3149623008 cites W2122628867 @default.
- W3149623008 cites W2145970562 @default.
- W3149623008 cites W2594247841 @default.
- W3149623008 cites W2617083836 @default.
- W3149623008 cites W2796737511 @default.
- W3149623008 cites W2931947809 @default.
- W3149623008 cites W2944286372 @default.
- W3149623008 cites W2945956970 @default.
- W3149623008 cites W2954175971 @default.
- W3149623008 cites W2959892584 @default.
- W3149623008 cites W2962394002 @default.
- W3149623008 doi "https://doi.org/10.1080/01677063.2021.1892094" @default.
- W3149623008 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33821742" @default.
- W3149623008 hasPublicationYear "2021" @default.
- W3149623008 type Work @default.
- W3149623008 sameAs 3149623008 @default.
- W3149623008 citedByCount "2" @default.
- W3149623008 countsByYear W31496230082021 @default.
- W3149623008 countsByYear W31496230082022 @default.
- W3149623008 crossrefType "journal-article" @default.
- W3149623008 hasAuthorship W3149623008A5004930517 @default.
- W3149623008 hasAuthorship W3149623008A5013253150 @default.
- W3149623008 hasAuthorship W3149623008A5027430673 @default.
- W3149623008 hasAuthorship W3149623008A5031512829 @default.
- W3149623008 hasAuthorship W3149623008A5044623890 @default.
- W3149623008 hasAuthorship W3149623008A5046363321 @default.
- W3149623008 hasAuthorship W3149623008A5046495281 @default.
- W3149623008 hasAuthorship W3149623008A5051664216 @default.
- W3149623008 hasAuthorship W3149623008A5079257891 @default.
- W3149623008 hasAuthorship W3149623008A5084271839 @default.
- W3149623008 hasBestOaLocation W31496230082 @default.
- W3149623008 hasConcept C104317684 @default.
- W3149623008 hasConcept C127716648 @default.
- W3149623008 hasConcept C16671776 @default.
- W3149623008 hasConcept C2779546488 @default.
- W3149623008 hasConcept C501734568 @default.
- W3149623008 hasConcept C54355233 @default.
- W3149623008 hasConcept C75563809 @default.
- W3149623008 hasConcept C86803240 @default.
- W3149623008 hasConceptScore W3149623008C104317684 @default.
- W3149623008 hasConceptScore W3149623008C127716648 @default.
- W3149623008 hasConceptScore W3149623008C16671776 @default.
- W3149623008 hasConceptScore W3149623008C2779546488 @default.
- W3149623008 hasConceptScore W3149623008C501734568 @default.
- W3149623008 hasConceptScore W3149623008C54355233 @default.
- W3149623008 hasConceptScore W3149623008C75563809 @default.
- W3149623008 hasConceptScore W3149623008C86803240 @default.
- W3149623008 hasFunder F4320307874 @default.
- W3149623008 hasIssue "2" @default.
- W3149623008 hasLocation W31496230081 @default.
- W3149623008 hasLocation W31496230082 @default.
- W3149623008 hasLocation W31496230083 @default.
- W3149623008 hasLocation W31496230084 @default.
- W3149623008 hasOpenAccess W3149623008 @default.
- W3149623008 hasPrimaryLocation W31496230081 @default.
- W3149623008 hasRelatedWork W1892224228 @default.
- W3149623008 hasRelatedWork W2031464773 @default.
- W3149623008 hasRelatedWork W2060397969 @default.
- W3149623008 hasRelatedWork W2091033100 @default.
- W3149623008 hasRelatedWork W2198170080 @default.
- W3149623008 hasRelatedWork W2335932594 @default.
- W3149623008 hasRelatedWork W2574921060 @default.
- W3149623008 hasRelatedWork W3024578347 @default.
- W3149623008 hasRelatedWork W3149623008 @default.
- W3149623008 hasRelatedWork W4248625909 @default.
- W3149623008 hasVolume "35" @default.
- W3149623008 isParatext "false" @default.
- W3149623008 isRetracted "false" @default.
- W3149623008 magId "3149623008" @default.
- W3149623008 workType "article" @default.