Matches in SemOpenAlex for { <https://semopenalex.org/work/W2983606979> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W2983606979 endingPage "216" @default.
- W2983606979 startingPage "211" @default.
- W2983606979 abstract "SCN3A was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy. We present two additional patients with a novel de novo SCN3A pathogenic variant, and a review of all published cases of de novo variants. In one of our patients brain magnetic resonance imaging (MRI) disclosed a severe polymicrogyria and in the other it was normal. The clinical phenotype was characterized by a severe developmental delay and refractory epilepsy in the patient with polymicrogyria and intellectual disability with autistic features and pharmacoresponsive epilepsy in the subject with normal MRI. Polymicrogyria, a disorder of progenitor cells proliferation and migration, is an unanticipated finding for an ion channel dysfunction." @default.
- W2983606979 created "2019-11-22" @default.
- W2983606979 creator A5035193770 @default.
- W2983606979 creator A5045493314 @default.
- W2983606979 creator A5049980471 @default.
- W2983606979 creator A5062261224 @default.
- W2983606979 creator A5062321658 @default.
- W2983606979 creator A5070848062 @default.
- W2983606979 creator A5071490053 @default.
- W2983606979 creator A5071630498 @default.
- W2983606979 creator A5080093541 @default.
- W2983606979 creator A5080408617 @default.
- W2983606979 date "2020-02-01" @default.
- W2983606979 modified "2023-09-23" @default.
- W2983606979 title "Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature" @default.
- W2983606979 cites W1978839145 @default.
- W2983606979 cites W2006288144 @default.
- W2983606979 cites W2081700981 @default.
- W2983606979 cites W2556048034 @default.
- W2983606979 cites W2579085839 @default.
- W2983606979 cites W2590287093 @default.
- W2983606979 cites W2793002335 @default.
- W2983606979 cites W2800849626 @default.
- W2983606979 cites W2888053187 @default.
- W2983606979 doi "https://doi.org/10.1016/j.braindev.2019.09.004" @default.
- W2983606979 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31677917" @default.
- W2983606979 hasPublicationYear "2020" @default.
- W2983606979 type Work @default.
- W2983606979 sameAs 2983606979 @default.
- W2983606979 citedByCount "12" @default.
- W2983606979 countsByYear W29836069792020 @default.
- W2983606979 countsByYear W29836069792021 @default.
- W2983606979 countsByYear W29836069792022 @default.
- W2983606979 countsByYear W29836069792023 @default.
- W2983606979 crossrefType "journal-article" @default.
- W2983606979 hasAuthorship W2983606979A5035193770 @default.
- W2983606979 hasAuthorship W2983606979A5045493314 @default.
- W2983606979 hasAuthorship W2983606979A5049980471 @default.
- W2983606979 hasAuthorship W2983606979A5062261224 @default.
- W2983606979 hasAuthorship W2983606979A5062321658 @default.
- W2983606979 hasAuthorship W2983606979A5070848062 @default.
- W2983606979 hasAuthorship W2983606979A5071490053 @default.
- W2983606979 hasAuthorship W2983606979A5071630498 @default.
- W2983606979 hasAuthorship W2983606979A5080093541 @default.
- W2983606979 hasAuthorship W2983606979A5080408617 @default.
- W2983606979 hasConcept C104317684 @default.
- W2983606979 hasConcept C118552586 @default.
- W2983606979 hasConcept C126838900 @default.
- W2983606979 hasConcept C127716648 @default.
- W2983606979 hasConcept C143409427 @default.
- W2983606979 hasConcept C15744967 @default.
- W2983606979 hasConcept C169760540 @default.
- W2983606979 hasConcept C205778803 @default.
- W2983606979 hasConcept C2778186239 @default.
- W2983606979 hasConcept C2778594975 @default.
- W2983606979 hasConcept C2778596996 @default.
- W2983606979 hasConcept C2779388368 @default.
- W2983606979 hasConcept C54355233 @default.
- W2983606979 hasConcept C551499885 @default.
- W2983606979 hasConcept C71924100 @default.
- W2983606979 hasConcept C86803240 @default.
- W2983606979 hasConceptScore W2983606979C104317684 @default.
- W2983606979 hasConceptScore W2983606979C118552586 @default.
- W2983606979 hasConceptScore W2983606979C126838900 @default.
- W2983606979 hasConceptScore W2983606979C127716648 @default.
- W2983606979 hasConceptScore W2983606979C143409427 @default.
- W2983606979 hasConceptScore W2983606979C15744967 @default.
- W2983606979 hasConceptScore W2983606979C169760540 @default.
- W2983606979 hasConceptScore W2983606979C205778803 @default.
- W2983606979 hasConceptScore W2983606979C2778186239 @default.
- W2983606979 hasConceptScore W2983606979C2778594975 @default.
- W2983606979 hasConceptScore W2983606979C2778596996 @default.
- W2983606979 hasConceptScore W2983606979C2779388368 @default.
- W2983606979 hasConceptScore W2983606979C54355233 @default.
- W2983606979 hasConceptScore W2983606979C551499885 @default.
- W2983606979 hasConceptScore W2983606979C71924100 @default.
- W2983606979 hasConceptScore W2983606979C86803240 @default.
- W2983606979 hasIssue "2" @default.
- W2983606979 hasLocation W29836069791 @default.
- W2983606979 hasOpenAccess W2983606979 @default.
- W2983606979 hasPrimaryLocation W29836069791 @default.
- W2983606979 hasRelatedWork W2068437962 @default.
- W2983606979 hasRelatedWork W2345311471 @default.
- W2983606979 hasRelatedWork W2899084033 @default.
- W2983606979 hasRelatedWork W2981333376 @default.
- W2983606979 hasRelatedWork W2983606979 @default.
- W2983606979 hasRelatedWork W3046888414 @default.
- W2983606979 hasRelatedWork W3132116694 @default.
- W2983606979 hasRelatedWork W3164051638 @default.
- W2983606979 hasRelatedWork W3212475515 @default.
- W2983606979 hasRelatedWork W4386134477 @default.
- W2983606979 hasVolume "42" @default.
- W2983606979 isParatext "false" @default.
- W2983606979 isRetracted "false" @default.
- W2983606979 magId "2983606979" @default.
- W2983606979 workType "article" @default.