FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022889105> ?p ?o ?g. }

• W2022889105 endingPage "373" @default.
• W2022889105 startingPage "367" @default.
• W2022889105 abstract "Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by tetrasomy 12p mosaicism associated with a supernumerary isochromosome. Craniofacial dysmorphism, learning impairment and seizures are considered characteristic. However, little is known of the seizure and epilepsy patterns seen in PKS. To better define the occurrence and nature of epileptic and non-epileptic paroxysmal events in PKS, we describe our experience with 5 patients and compare their features with data from a larger cohort of PKS patients ascertained via a web-based parental questionnaire. Three of the 5 patients have had definite epileptic seizures, and one other has had paroxysmal events as yet not clarified. Four of the 5 have also had either non-epileptic paroxysmal events or episodes of uncertain nature. In those with epilepsy, all have had some period of relatively refractory seizures, all have required more than one antiepileptic drug, but none experienced status epilepticus. Only one of the patients with epilepsy (the oldest) has gone into remission. In two of the four with non-epileptic events, video-electroencephalographic monitoring has been valuable in clarifying the nature of the events. EEG characteristics include a slow dominant frequency as well as generalized and focal epileptiform features. Brain MRI findings can be normal but are variable. These specific findings correspond well to information reported by parents in a larger cohort of 51 individuals with PKS. Better understanding of the nature of epileptic and non-epileptic events in PKS will result from a more detailed analysis of objective data obtained from this larger cohort, and from deeper understanding of the molecular impact of 12p tetrasomy in selected cell lines." @default.
• W2022889105 created "2016-06-24" @default.
• W2022889105 creator A5010801552 @default.
• W2022889105 creator A5012216196 @default.
• W2022889105 creator A5029681128 @default.
• W2022889105 creator A5055955550 @default.
• W2022889105 creator A5075540991 @default.
• W2022889105 date "2012-05-01" @default.
• W2022889105 modified "2023-10-18" @default.
• W2022889105 title "Occurrence and clinical features of epileptic and non-epileptic paroxysmal events in five children with Pallister–Killian syndrome" @default.
• W2022889105 cites W1598461364 @default.
• W2022889105 cites W1761743097 @default.
• W2022889105 cites W1920724428 @default.
• W2022889105 cites W1974439963 @default.
• W2022889105 cites W1977018103 @default.
• W2022889105 cites W1983447089 @default.
• W2022889105 cites W1985722159 @default.
• W2022889105 cites W1986547700 @default.
• W2022889105 cites W2025970821 @default.
• W2022889105 cites W2027039241 @default.
• W2022889105 cites W2039273483 @default.
• W2022889105 cites W2043728898 @default.
• W2022889105 cites W2048135097 @default.
• W2022889105 cites W2049175135 @default.
• W2022889105 cites W2049344686 @default.
• W2022889105 cites W2055595251 @default.
• W2022889105 cites W2057192874 @default.
• W2022889105 cites W2058270659 @default.
• W2022889105 cites W2072128770 @default.
• W2022889105 cites W2074903812 @default.
• W2022889105 cites W2077784061 @default.
• W2022889105 cites W2079428870 @default.
• W2022889105 cites W2082939513 @default.
• W2022889105 cites W2093561063 @default.
• W2022889105 cites W2101218558 @default.
• W2022889105 cites W2108569845 @default.
• W2022889105 cites W2113679700 @default.
• W2022889105 cites W2116159807 @default.
• W2022889105 cites W2165671775 @default.
• W2022889105 cites W2171748364 @default.
• W2022889105 doi "https://doi.org/10.1016/j.ejmg.2012.01.006" @default.
• W2022889105 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3556791" @default.
• W2022889105 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/22349688" @default.
• W2022889105 hasPublicationYear "2012" @default.
• W2022889105 type Work @default.
• W2022889105 sameAs 2022889105 @default.
• W2022889105 citedByCount "10" @default.
• W2022889105 countsByYear W20228891052015 @default.
• W2022889105 countsByYear W20228891052016 @default.
• W2022889105 countsByYear W20228891052017 @default.
• W2022889105 countsByYear W20228891052018 @default.
• W2022889105 countsByYear W20228891052019 @default.
• W2022889105 countsByYear W20228891052021 @default.
• W2022889105 countsByYear W20228891052022 @default.
• W2022889105 crossrefType "journal-article" @default.
• W2022889105 hasAuthorship W2022889105A5010801552 @default.
• W2022889105 hasAuthorship W2022889105A5012216196 @default.
• W2022889105 hasAuthorship W2022889105A5029681128 @default.
• W2022889105 hasAuthorship W2022889105A5055955550 @default.
• W2022889105 hasAuthorship W2022889105A5075540991 @default.
• W2022889105 hasBestOaLocation W20228891052 @default.
• W2022889105 hasConcept C104317684 @default.
• W2022889105 hasConcept C118552586 @default.
• W2022889105 hasConcept C126322002 @default.
• W2022889105 hasConcept C15744967 @default.
• W2022889105 hasConcept C187212893 @default.
• W2022889105 hasConcept C2778186239 @default.
• W2022889105 hasConcept C2778201146 @default.
• W2022889105 hasConcept C2778249689 @default.
• W2022889105 hasConcept C2778734009 @default.
• W2022889105 hasConcept C2779426884 @default.
• W2022889105 hasConcept C2779672484 @default.
• W2022889105 hasConcept C2780874087 @default.
• W2022889105 hasConcept C30481170 @default.
• W2022889105 hasConcept C522805319 @default.
• W2022889105 hasConcept C54355233 @default.
• W2022889105 hasConcept C71924100 @default.
• W2022889105 hasConcept C72563966 @default.
• W2022889105 hasConcept C86803240 @default.
• W2022889105 hasConceptScore W2022889105C104317684 @default.
• W2022889105 hasConceptScore W2022889105C118552586 @default.
• W2022889105 hasConceptScore W2022889105C126322002 @default.
• W2022889105 hasConceptScore W2022889105C15744967 @default.
• W2022889105 hasConceptScore W2022889105C187212893 @default.
• W2022889105 hasConceptScore W2022889105C2778186239 @default.
• W2022889105 hasConceptScore W2022889105C2778201146 @default.
• W2022889105 hasConceptScore W2022889105C2778249689 @default.
• W2022889105 hasConceptScore W2022889105C2778734009 @default.
• W2022889105 hasConceptScore W2022889105C2779426884 @default.
• W2022889105 hasConceptScore W2022889105C2779672484 @default.
• W2022889105 hasConceptScore W2022889105C2780874087 @default.
• W2022889105 hasConceptScore W2022889105C30481170 @default.
• W2022889105 hasConceptScore W2022889105C522805319 @default.
• W2022889105 hasConceptScore W2022889105C54355233 @default.
• W2022889105 hasConceptScore W2022889105C71924100 @default.
• W2022889105 hasConceptScore W2022889105C72563966 @default.
• W2022889105 hasConceptScore W2022889105C86803240 @default.
• W2022889105 hasIssue "5" @default.

• next