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

Siddharth Gupta,Yun Hwang,Natasha Ludwig,Julia Henry,Shilpa D Kadam

Frontiers in neurology（2023）

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摘要

Similar to the Syngap1 mice, cortical gamma homeostasis was dysregulated in the patient. This dysfunction was rescued by PER. These encouraging results necessitate further validation of gamma dysregulation as a potential translational EEG biomarker in SYNAP1-DEE. Low-dose PER can be explored as a therapeutic option through clinical trials.

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关键词

neurodevelopmental disorder, seizures, anti-seizure medication, perampanel, SYNGAP1

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