Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants

We report on the rare case of a male toddler presenting with myoclonic epilepsy characterized by daily episodes of upward movements of the eyebrows, and myoclonic jerks of both head and upper limbs. In addition, the child showed speech delay, tremors, and lack of motor coordination. Next Generation...

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Detalles Bibliográficos
Autores principales: Perilli, Lorenzo, Mastromoro, Gioia, Murciano, Manuel, Amedeo, Ilaria, Avenoso, Federica, Pizzuti, Antonio, Guido, Cristiana Alessia, Spalice, Alberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8844549/
https://www.ncbi.nlm.nih.gov/pubmed/35178022
http://dx.doi.org/10.3389/fneur.2021.806516

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8844549/
https://www.ncbi.nlm.nih.gov/pubmed/35178022
http://dx.doi.org/10.3389/fneur.2021.806516

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