Effective treatment of NR2F1-related epilepsy with perampanel
Effective treatment of NR2F1-related epilepsy with perampanel
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Author / Creator
Li, Xiao , Gao, Kai , Li, Yutang , Zhang, Yuehua , Zhang, Han and Jiang, Yuwu
Publisher
England: Springer
Journal title
Language
English
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Publication information
Publisher
England: Springer
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Scope and Contents
Contents
NR2F1 mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS). Although ~ 46.7% of BBSOAS patients present with epilepsy, which is always drug-resistant and associated with higher rates of behavioral and cognitive problems, the treatment and outcomes of NR2F1-related epilepsy have rarely been described. Here, we present...
Alternative Titles
Full title
Effective treatment of NR2F1-related epilepsy with perampanel
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11960385
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11960385
Other Identifiers
ISSN
2096-9384,2524-4434
E-ISSN
2524-4434
DOI
10.1186/s42494-023-00145-0