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Refractory Jeavons Syndrome from Birth Symptomatic to PLCB1 Mutation

Jeavons syndrome is a common, often misdiagnosed or overlooked epileptic syndrome presenting with a triad of eyelid myoclonia with or without absence seizures, eye closure-induced EEG paroxysms, and photosensitivity. We present a seven-year-old female who presented with eyelid myoclonia evident sinc...

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Detalles Bibliográficos
Autores principales: Spurgeon, Alexandria L., Keaveney, Shannon F., Ng, Yu-Tze
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10334019/
https://www.ncbi.nlm.nih.gov/pubmed/37441061
http://dx.doi.org/10.1177/2329048X231183524