Matches in SemOpenAlex for { <https://semopenalex.org/work/W4205654585> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W4205654585 endingPage "04" @default.
- W4205654585 startingPage "01" @default.
- W4205654585 abstract "Up to date more than 60 different mutations in PCDH19 have been identified. Most of PCDH19 gene is located in Xq22 and produces nonclustered delta protocadherin. This disorder primarily manifests in heterozygote females due to random X chromosome inactivation leading to somatic mosaicism and abnormal cellular interference between cells with and without delta-protocadherin., but we a heterozygous nucleotide mutation causing amino acid 561 to change from Pro to Ser (p.Pro561Ser). This mutation was de novo, and this alteration was not found in her parents. PCDH19-related epilepsy is a distinct childhood-onset epilepsy syndrome characterized by brief clusters of febrile and afebrile seizures with onset primarily before the age of three years, cognitive impairment, autistic traits, and behavioral abnormalities. We describe the features of a de novo mutation in 3 sibling, presented with early onset of seizure, two of them were controlled and wean off medication was at age of six year and her sister at age of 10 year .The youngest sister still partially controlled on medication, she had seizure only during febrile illness." @default.
- W4205654585 created "2022-01-25" @default.
- W4205654585 creator A5078235191 @default.
- W4205654585 creator A5083659792 @default.
- W4205654585 date "2022-01-07" @default.
- W4205654585 modified "2023-09-26" @default.
- W4205654585 title "Case report of a de novo mutation of PCDH19 in Saudi family limited to females" @default.
- W4205654585 doi "https://doi.org/10.31579/2693-4779/063" @default.
- W4205654585 hasPublicationYear "2022" @default.
- W4205654585 type Work @default.
- W4205654585 citedByCount "0" @default.
- W4205654585 crossrefType "journal-article" @default.
- W4205654585 hasAuthorship W4205654585A5078235191 @default.
- W4205654585 hasAuthorship W4205654585A5083659792 @default.
- W4205654585 hasBestOaLocation W42056545851 @default.
- W4205654585 hasConcept C104317684 @default.
- W4205654585 hasConcept C138496976 @default.
- W4205654585 hasConcept C1491633281 @default.
- W4205654585 hasConcept C149402561 @default.
- W4205654585 hasConcept C15744967 @default.
- W4205654585 hasConcept C163911330 @default.
- W4205654585 hasConcept C169760540 @default.
- W4205654585 hasConcept C187212893 @default.
- W4205654585 hasConcept C2776194465 @default.
- W4205654585 hasConcept C2778186239 @default.
- W4205654585 hasConcept C501734568 @default.
- W4205654585 hasConcept C54355233 @default.
- W4205654585 hasConcept C551499885 @default.
- W4205654585 hasConcept C71924100 @default.
- W4205654585 hasConcept C86803240 @default.
- W4205654585 hasConceptScore W4205654585C104317684 @default.
- W4205654585 hasConceptScore W4205654585C138496976 @default.
- W4205654585 hasConceptScore W4205654585C1491633281 @default.
- W4205654585 hasConceptScore W4205654585C149402561 @default.
- W4205654585 hasConceptScore W4205654585C15744967 @default.
- W4205654585 hasConceptScore W4205654585C163911330 @default.
- W4205654585 hasConceptScore W4205654585C169760540 @default.
- W4205654585 hasConceptScore W4205654585C187212893 @default.
- W4205654585 hasConceptScore W4205654585C2776194465 @default.
- W4205654585 hasConceptScore W4205654585C2778186239 @default.
- W4205654585 hasConceptScore W4205654585C501734568 @default.
- W4205654585 hasConceptScore W4205654585C54355233 @default.
- W4205654585 hasConceptScore W4205654585C551499885 @default.
- W4205654585 hasConceptScore W4205654585C71924100 @default.
- W4205654585 hasConceptScore W4205654585C86803240 @default.
- W4205654585 hasIssue "1" @default.
- W4205654585 hasLocation W42056545851 @default.
- W4205654585 hasOpenAccess W4205654585 @default.
- W4205654585 hasPrimaryLocation W42056545851 @default.
- W4205654585 hasRelatedWork W2002128513 @default.
- W4205654585 hasRelatedWork W2045097411 @default.
- W4205654585 hasRelatedWork W2049205612 @default.
- W4205654585 hasRelatedWork W2327203353 @default.
- W4205654585 hasRelatedWork W2524115679 @default.
- W4205654585 hasRelatedWork W2604188537 @default.
- W4205654585 hasRelatedWork W2910617157 @default.
- W4205654585 hasRelatedWork W3025430644 @default.
- W4205654585 hasRelatedWork W3030920711 @default.
- W4205654585 hasRelatedWork W2092874662 @default.
- W4205654585 hasVolume "5" @default.
- W4205654585 isParatext "false" @default.
- W4205654585 isRetracted "false" @default.
- W4205654585 workType "article" @default.