FARS2 (Phenylalanyl-tRNA Synthetase 2) Deficiency: A Novel Mutation Associated with EEG Phenotype of Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)

Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare devastating infantile epileptic encephalopathy that is characterized by a unique electroencephalopgraphy (EEG) signature of multifocal simultaneous seizures. Although no definite etiology is understood for EIMFS, mutations in certai...

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Detalles Bibliográficos
Autores principales: Guerrero, Carlos Mario, Bhatia, Sonal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757510/
https://www.ncbi.nlm.nih.gov/pubmed/36531778
http://dx.doi.org/10.4103/jpn.JPN_207_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757510/
https://www.ncbi.nlm.nih.gov/pubmed/36531778
http://dx.doi.org/10.4103/jpn.JPN_207_20

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