Matches in SemOpenAlex for { <https://semopenalex.org/work/W4385322846> ?p ?o ?g. }
Showing items 1 to 57 of
57
with 100 items per page.
- W4385322846 endingPage "1334" @default.
- W4385322846 startingPage "1330" @default.
- W4385322846 abstract "Developmental epileptic encephalopathy (DEE) is a group of ictal and interictal epileptiform disorders (clinical and encephalographic) associated with severe cognitive and behavioural impairments according to the classification and terminology criteria of the international league against epilepsy (ILAE). Less than half of the genetic etiologies have been identified, even though DEEs are genetically heterogenous. Hence, genetic diagnoses of childhood neurological disorders are important as well as challenging. This research aims at determining the diagnostic utility of genetic testing (whole exome sequencing) in heterogeneous group of childhood DEEs. Here, we present the case series of 5 children who have had at least 1 episode of seizure during their lifetime associated with developmental delay and a definite genetic etiology. In view of an unrecognised aetiology, parents were counselled for a genetic evaluation. Genetic test reports showed pathogenic gene variation for epilepsy. Even though intervention would be mostly be the same, genetic aetiology helped us in prognosticating and improving the family’s outlook towards the disease condition. Hence it is desirable to identify genetic variations in all possible childhood epilepsy cases as it has the potential to improve family planning, aid the prognosis, and start specific interventions and also helps to save time in selecting appropriate anti-epileptic drugs." @default.
- W4385322846 created "2023-07-28" @default.
- W4385322846 creator A5080252841 @default.
- W4385322846 creator A5081566045 @default.
- W4385322846 creator A5092030484 @default.
- W4385322846 date "2023-07-27" @default.
- W4385322846 modified "2023-09-23" @default.
- W4385322846 title "Genetic epilepsy-digging in for gold: a case series on diagnostic genetic testing in epilepsy" @default.
- W4385322846 doi "https://doi.org/10.18203/2349-3291.ijcp20232256" @default.
- W4385322846 hasPublicationYear "2023" @default.
- W4385322846 type Work @default.
- W4385322846 citedByCount "0" @default.
- W4385322846 crossrefType "journal-article" @default.
- W4385322846 hasAuthorship W4385322846A5080252841 @default.
- W4385322846 hasAuthorship W4385322846A5081566045 @default.
- W4385322846 hasAuthorship W4385322846A5092030484 @default.
- W4385322846 hasBestOaLocation W43853228461 @default.
- W4385322846 hasConcept C118552586 @default.
- W4385322846 hasConcept C126322002 @default.
- W4385322846 hasConcept C137627325 @default.
- W4385322846 hasConcept C17755696 @default.
- W4385322846 hasConcept C187212893 @default.
- W4385322846 hasConcept C2778186239 @default.
- W4385322846 hasConcept C2778734009 @default.
- W4385322846 hasConcept C2780665704 @default.
- W4385322846 hasConcept C2780673598 @default.
- W4385322846 hasConcept C71924100 @default.
- W4385322846 hasConceptScore W4385322846C118552586 @default.
- W4385322846 hasConceptScore W4385322846C126322002 @default.
- W4385322846 hasConceptScore W4385322846C137627325 @default.
- W4385322846 hasConceptScore W4385322846C17755696 @default.
- W4385322846 hasConceptScore W4385322846C187212893 @default.
- W4385322846 hasConceptScore W4385322846C2778186239 @default.
- W4385322846 hasConceptScore W4385322846C2778734009 @default.
- W4385322846 hasConceptScore W4385322846C2780665704 @default.
- W4385322846 hasConceptScore W4385322846C2780673598 @default.
- W4385322846 hasConceptScore W4385322846C71924100 @default.
- W4385322846 hasIssue "8" @default.
- W4385322846 hasLocation W43853228461 @default.
- W4385322846 hasOpenAccess W4385322846 @default.
- W4385322846 hasPrimaryLocation W43853228461 @default.
- W4385322846 hasRelatedWork W1568672858 @default.
- W4385322846 hasRelatedWork W2006723305 @default.
- W4385322846 hasRelatedWork W2013957148 @default.
- W4385322846 hasRelatedWork W2411628248 @default.
- W4385322846 hasRelatedWork W2466342515 @default.
- W4385322846 hasRelatedWork W2562596557 @default.
- W4385322846 hasRelatedWork W2766880411 @default.
- W4385322846 hasRelatedWork W3134114018 @default.
- W4385322846 hasRelatedWork W4225006941 @default.
- W4385322846 hasRelatedWork W4360985155 @default.
- W4385322846 hasVolume "10" @default.
- W4385322846 isParatext "false" @default.
- W4385322846 isRetracted "false" @default.
- W4385322846 workType "article" @default.