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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...
Autores principales: | Spurgeon, Alexandria L., Keaveney, Shannon F., Ng, Yu-Tze |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
SAGE Publications
2023
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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 |
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