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

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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Bibliographic Details
Main Authors: Lorenzo Perilli, Gioia Mastromoro, Manuel Murciano, Ilaria Amedeo, Federica Avenoso, Antonio Pizzuti, Cristiana Alessia Guido, Alberto Spalice
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-02-01
Series:Frontiers in Neurology
Subjects:
epilepsy
KCNA2
epileptic encephalopathies
genetic variants
genotype-first approach
epilepsy—abnormalities
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.806516/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.806516/full

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