Matches in SemOpenAlex for { <https://semopenalex.org/work/W4386898713> ?p ?o ?g. }
Showing items 1 to 87 of
87
with 100 items per page.
- W4386898713 endingPage "106299" @default.
- W4386898713 startingPage "106299" @default.
- W4386898713 abstract "De novo somatic (post-zygotic) gene mutations affecting neuroglial progenitor cell types in embryonic cerebral cortex are increasingly identified in patients with drug resistant epilepsy (DRE) associated with malformations of cortical development, in particular, focal cortical dysplasias (FCD). Somatic variants in at least 16 genes have been linked to FCD type II, all encoding components of the mechanistic target of rapamycin (mTOR) pathway. FCD type II is characterized histopathologically by cytomegalic dysmorphic neurons and balloon cells. In contrast, the molecular pathogenesis of FCD I subtypes is less well understood, and histological features are characterized by alterations in columnar or laminar organization without cytomegalic dysmorphic neurons or balloon cells. In 2018, we reported somatic mutations in Solute Carrier Family 35 member A2 (SLC35A2) linked to DRE underlying FCD type I and subsequently to a new histopathological phenotype: excess oligodendrocytes and heterotopic neurons in subcortical white matter known as MOGHE (mild malformation of cortical development with oligodendroglial hyperplasia). These discoveries opened the door to studies linking somatic mutations to FCD. In this review, we discuss the biology of SLC35A2 somatic mutations in epilepsy in FCD and MOGHE, and insights into SLC35A2 epilepsy pathogenesis, describing progress to date and critical areas for investigation." @default.
- W4386898713 created "2023-09-21" @default.
- W4386898713 creator A5039136394 @default.
- W4386898713 creator A5054550403 @default.
- W4386898713 creator A5085178987 @default.
- W4386898713 date "2023-10-01" @default.
- W4386898713 modified "2023-10-05" @default.
- W4386898713 title "SLC35A2 somatic variants in drug resistant epilepsy: FCD and MOGHE" @default.
- W4386898713 cites W2007078426 @default.
- W4386898713 cites W2103738596 @default.
- W4386898713 cites W2165166622 @default.
- W4386898713 cites W2230815614 @default.
- W4386898713 cites W2346927161 @default.
- W4386898713 cites W2801607485 @default.
- W4386898713 cites W2883098730 @default.
- W4386898713 cites W2902245576 @default.
- W4386898713 cites W2912327695 @default.
- W4386898713 cites W2918590309 @default.
- W4386898713 cites W2955568677 @default.
- W4386898713 cites W2969667716 @default.
- W4386898713 cites W3006895061 @default.
- W4386898713 cites W3036664505 @default.
- W4386898713 cites W3119404665 @default.
- W4386898713 cites W3119992351 @default.
- W4386898713 cites W3196720105 @default.
- W4386898713 cites W4220914784 @default.
- W4386898713 cites W4281711508 @default.
- W4386898713 cites W4282964556 @default.
- W4386898713 cites W4304845304 @default.
- W4386898713 cites W4307581424 @default.
- W4386898713 cites W4308459230 @default.
- W4386898713 doi "https://doi.org/10.1016/j.nbd.2023.106299" @default.
- W4386898713 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37739137" @default.
- W4386898713 hasPublicationYear "2023" @default.
- W4386898713 type Work @default.
- W4386898713 citedByCount "0" @default.
- W4386898713 crossrefType "journal-article" @default.
- W4386898713 hasAuthorship W4386898713A5039136394 @default.
- W4386898713 hasAuthorship W4386898713A5054550403 @default.
- W4386898713 hasAuthorship W4386898713A5085178987 @default.
- W4386898713 hasBestOaLocation W43868987131 @default.
- W4386898713 hasConcept C104317684 @default.
- W4386898713 hasConcept C126838900 @default.
- W4386898713 hasConcept C134305767 @default.
- W4386898713 hasConcept C142724271 @default.
- W4386898713 hasConcept C143409427 @default.
- W4386898713 hasConcept C169760540 @default.
- W4386898713 hasConcept C2778186239 @default.
- W4386898713 hasConcept C2781192897 @default.
- W4386898713 hasConcept C54355233 @default.
- W4386898713 hasConcept C71924100 @default.
- W4386898713 hasConcept C86803240 @default.
- W4386898713 hasConceptScore W4386898713C104317684 @default.
- W4386898713 hasConceptScore W4386898713C126838900 @default.
- W4386898713 hasConceptScore W4386898713C134305767 @default.
- W4386898713 hasConceptScore W4386898713C142724271 @default.
- W4386898713 hasConceptScore W4386898713C143409427 @default.
- W4386898713 hasConceptScore W4386898713C169760540 @default.
- W4386898713 hasConceptScore W4386898713C2778186239 @default.
- W4386898713 hasConceptScore W4386898713C2781192897 @default.
- W4386898713 hasConceptScore W4386898713C54355233 @default.
- W4386898713 hasConceptScore W4386898713C71924100 @default.
- W4386898713 hasConceptScore W4386898713C86803240 @default.
- W4386898713 hasFunder F4320310578 @default.
- W4386898713 hasFunder F4320332161 @default.
- W4386898713 hasFunder F4320334621 @default.
- W4386898713 hasFunder F4320337359 @default.
- W4386898713 hasLocation W43868987131 @default.
- W4386898713 hasLocation W43868987132 @default.
- W4386898713 hasOpenAccess W4386898713 @default.
- W4386898713 hasPrimaryLocation W43868987131 @default.
- W4386898713 hasRelatedWork W2014709273 @default.
- W4386898713 hasRelatedWork W2027937338 @default.
- W4386898713 hasRelatedWork W2066749872 @default.
- W4386898713 hasRelatedWork W2084489273 @default.
- W4386898713 hasRelatedWork W2094754649 @default.
- W4386898713 hasRelatedWork W2113377893 @default.
- W4386898713 hasRelatedWork W2160545205 @default.
- W4386898713 hasRelatedWork W2344029370 @default.
- W4386898713 hasRelatedWork W2615622965 @default.
- W4386898713 hasRelatedWork W429146863 @default.
- W4386898713 hasVolume "187" @default.
- W4386898713 isParatext "false" @default.
- W4386898713 isRetracted "false" @default.
- W4386898713 workType "article" @default.