Matches in SemOpenAlex for { <https://semopenalex.org/work/W595376650> ?p ?o ?g. }
Showing items 1 to 85 of
85
with 100 items per page.
- W595376650 endingPage "29" @default.
- W595376650 startingPage "27" @default.
- W595376650 abstract "Ehlers-Danlos syndrome (EDS), comprising a variety of inherited connective tissue disorders, has already been described in association with various neurological features, particularly with epilepsy and periventricular heterotopia (PH). Until now, there are reports of only bilateral periventricular heterotopia associated with Ehlers-Danlos syndrome.Here we describe a 1-year, 4-month-old female who came under our care in the Pediatric Emergency Room because of prolonged afebrile generalized seizures, whose clinical picture allowed us to suspect a diagnosis of Ehlers-Danlos syndrome. Neuroradiological investigations showed unilateral periventricular heterotopias, and genetic analyses confirmed the hypothesized diagnosis, identifying in particular a mutation in the COL5A1 gene. After starting anticonvulsant therapy, her seizures showed a good response with seizure control and she had a favorable long-term course.To our knowledge, this is the first report of unilateral periventricular heterotopia associated with Ehlers-Danlos syndrome. We first hypothesized a mosaicism as the cause of both, a unilateral localization of the heterotopias and a favorable long-term course with good response to anticonvulsant therapy; however, intriguingly, we could not demonstrate a mosaicism as the genetic condition in our patient and the neuroradiological findings and the favorable clinical outcome still remain unexplained." @default.
- W595376650 created "2016-06-24" @default.
- W595376650 creator A5033179657 @default.
- W595376650 creator A5041871078 @default.
- W595376650 creator A5048731165 @default.
- W595376650 creator A5053732879 @default.
- W595376650 creator A5063484453 @default.
- W595376650 creator A5067012061 @default.
- W595376650 date "2015-01-01" @default.
- W595376650 modified "2023-10-16" @default.
- W595376650 title "Unilateral periventricular heterotopia and epilepsy in a girl with Ehlers–Danlos syndrome" @default.
- W595376650 cites W1972985236 @default.
- W595376650 cites W1983748801 @default.
- W595376650 cites W1991101653 @default.
- W595376650 cites W2063752268 @default.
- W595376650 cites W2086482654 @default.
- W595376650 cites W2104371335 @default.
- W595376650 cites W2107150531 @default.
- W595376650 cites W2123661454 @default.
- W595376650 cites W2124170770 @default.
- W595376650 cites W2125376499 @default.
- W595376650 cites W2126838022 @default.
- W595376650 cites W2137373144 @default.
- W595376650 cites W2153707891 @default.
- W595376650 cites W2157732794 @default.
- W595376650 cites W2167557855 @default.
- W595376650 cites W2399797271 @default.
- W595376650 doi "https://doi.org/10.1016/j.ebcr.2015.05.004" @default.
- W595376650 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4477102" @default.
- W595376650 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/26110114" @default.
- W595376650 hasPublicationYear "2015" @default.
- W595376650 type Work @default.
- W595376650 sameAs 595376650 @default.
- W595376650 citedByCount "3" @default.
- W595376650 countsByYear W5953766502018 @default.
- W595376650 countsByYear W5953766502020 @default.
- W595376650 crossrefType "journal-article" @default.
- W595376650 hasAuthorship W595376650A5033179657 @default.
- W595376650 hasAuthorship W595376650A5041871078 @default.
- W595376650 hasAuthorship W595376650A5048731165 @default.
- W595376650 hasAuthorship W595376650A5053732879 @default.
- W595376650 hasAuthorship W595376650A5063484453 @default.
- W595376650 hasAuthorship W595376650A5067012061 @default.
- W595376650 hasBestOaLocation W5953766501 @default.
- W595376650 hasConcept C118552586 @default.
- W595376650 hasConcept C142724271 @default.
- W595376650 hasConcept C187212893 @default.
- W595376650 hasConcept C2778186239 @default.
- W595376650 hasConcept C2778333328 @default.
- W595376650 hasConcept C2778596996 @default.
- W595376650 hasConcept C2781444307 @default.
- W595376650 hasConcept C71924100 @default.
- W595376650 hasConceptScore W595376650C118552586 @default.
- W595376650 hasConceptScore W595376650C142724271 @default.
- W595376650 hasConceptScore W595376650C187212893 @default.
- W595376650 hasConceptScore W595376650C2778186239 @default.
- W595376650 hasConceptScore W595376650C2778333328 @default.
- W595376650 hasConceptScore W595376650C2778596996 @default.
- W595376650 hasConceptScore W595376650C2781444307 @default.
- W595376650 hasConceptScore W595376650C71924100 @default.
- W595376650 hasLocation W5953766501 @default.
- W595376650 hasLocation W5953766502 @default.
- W595376650 hasLocation W5953766503 @default.
- W595376650 hasLocation W5953766504 @default.
- W595376650 hasLocation W5953766505 @default.
- W595376650 hasLocation W5953766506 @default.
- W595376650 hasOpenAccess W595376650 @default.
- W595376650 hasPrimaryLocation W5953766501 @default.
- W595376650 hasRelatedWork W1969869728 @default.
- W595376650 hasRelatedWork W2019632312 @default.
- W595376650 hasRelatedWork W2063752268 @default.
- W595376650 hasRelatedWork W2161172748 @default.
- W595376650 hasRelatedWork W2409436833 @default.
- W595376650 hasRelatedWork W2464323768 @default.
- W595376650 hasRelatedWork W2523130359 @default.
- W595376650 hasRelatedWork W2562315447 @default.
- W595376650 hasRelatedWork W4284690799 @default.
- W595376650 hasRelatedWork W595376650 @default.
- W595376650 hasVolume "4" @default.
- W595376650 isParatext "false" @default.
- W595376650 isRetracted "false" @default.
- W595376650 magId "595376650" @default.
- W595376650 workType "article" @default.