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Effective treatment of NR2F1-related epilepsy with perampanel

Effective treatment of NR2F1-related epilepsy with perampanel

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11960385

Effective treatment of NR2F1-related epilepsy with perampanel

About this item

Full title

Effective treatment of NR2F1-related epilepsy with perampanel

Publisher

England: Springer

Journal title

Acta Epileptologica, 2024-01, Vol.6 (1), p.3, Article 3

Language

English

Formats

Publication information

Publisher

England: Springer

More information

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

Authors, Artists and Contributors

Identifiers

Primary Identifiers

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

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