Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant

Case report: Off-label use of low-dose perampanel in a 25-month-old girl with a pathogenic SYNGAP1 variant

IntroductionPreclinical studies in a mouse model have shown that SYNGAP1 haploinsufficiency results in an epilepsy phenotype with excessive GluA2-AMPA insertion specifically on the soma of fast-spiking parvalbumin-positive interneurons associated with significant dysfunction of cortical gamma homeos...

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Bibliographic Details
Main Authors: Siddharth Gupta, Yun Hwang, Natasha Ludwig, Julia Henry, Shilpa D. Kadam
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Neurology
Subjects:
neurodevelopmental disorder
seizures
anti-seizure medication
perampanel
SYNGAP1
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1221161/full

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