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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Frontiers Media S.A.
2022-02-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fneur.2021.806516/full |
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| author | Lorenzo Perilli Gioia Mastromoro Manuel Murciano Manuel Murciano Ilaria Amedeo Federica Avenoso Antonio Pizzuti Cristiana Alessia Guido Alberto Spalice |
| author_facet | Lorenzo Perilli Gioia Mastromoro Manuel Murciano Manuel Murciano Ilaria Amedeo Federica Avenoso Antonio Pizzuti Cristiana Alessia Guido Alberto Spalice |
| author_sort | Lorenzo Perilli |
| collection | DOAJ |
| description | 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 Sequencing analysis (NGS) performed in trio revealed in the proband the c.889C>T de novo missense variant in the KCNA2 gene in heterozygous state. This is the first case of myoclonic epilepsy in a toddler due to a c.889C>T KCNA2 missense variant. The patient was treated with valproic acid and ethosuximide with a good clinical response. At 6 years old, follow-up revealed that the proband was seizure-free with tremors and clumsiness in movements. According to the literature, this case supports the correlation between myoclonic epilepsy and KCNA2 alterations. This evidence suggests that performing genomic testing including the KCNA2 gene in preschool patients affected by myoclonic epilepsy, especially when associated with delayed neurodevelopment. Our goal is to expand the phenotypical spectrum of this rare condition and adding clinical features following a genotype-first approach. |
| first_indexed | 2024-12-13T05:05:25Z |
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| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-13T05:05:25Z |
| publishDate | 2022-02-01 |
| publisher | Frontiers Media S.A. |
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| series | Frontiers in Neurology |
| spelling | doaj.art-cff4bdd9fba2469a833f360905e7b9192022-12-21T23:58:41ZengFrontiers Media S.A.Frontiers in Neurology1664-22952022-02-011210.3389/fneur.2021.806516806516Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic VariantsLorenzo Perilli0Gioia Mastromoro1Manuel Murciano2Manuel Murciano3Ilaria Amedeo4Federica Avenoso5Antonio Pizzuti6Cristiana Alessia Guido7Alberto Spalice8Department of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyFaculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, ItalyDepartment of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Emergency Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyDepartment of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyFaculty of Medicine and Dentistry, Department of Experimental Medicine, Sapienza University of Rome, Rome, ItalyDepartment of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyDepartment of Mother and Child and Urological Sciences, Sapienza University of Rome, Rome, ItalyWe 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 Sequencing analysis (NGS) performed in trio revealed in the proband the c.889C>T de novo missense variant in the KCNA2 gene in heterozygous state. This is the first case of myoclonic epilepsy in a toddler due to a c.889C>T KCNA2 missense variant. The patient was treated with valproic acid and ethosuximide with a good clinical response. At 6 years old, follow-up revealed that the proband was seizure-free with tremors and clumsiness in movements. According to the literature, this case supports the correlation between myoclonic epilepsy and KCNA2 alterations. This evidence suggests that performing genomic testing including the KCNA2 gene in preschool patients affected by myoclonic epilepsy, especially when associated with delayed neurodevelopment. Our goal is to expand the phenotypical spectrum of this rare condition and adding clinical features following a genotype-first approach.https://www.frontiersin.org/articles/10.3389/fneur.2021.806516/fullepilepsyKCNA2epileptic encephalopathiesgenetic variantsgenotype-first approachepilepsy—abnormalities |
| spellingShingle | Lorenzo Perilli Gioia Mastromoro Manuel Murciano Manuel Murciano Ilaria Amedeo Federica Avenoso Antonio Pizzuti Cristiana Alessia Guido Alberto Spalice Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants Frontiers in Neurology epilepsy KCNA2 epileptic encephalopathies genetic variants genotype-first approach epilepsy—abnormalities |
| title | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants |
| title_full | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants |
| title_fullStr | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants |
| title_full_unstemmed | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants |
| title_short | Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants |
| title_sort | myoclonic epilepsy case report of a mild phenotype in a pediatric patient expanding clinical spectrum of kcna2 pathogenic variants |
| topic | epilepsy KCNA2 epileptic encephalopathies genetic variants genotype-first approach epilepsy—abnormalities |
| url | https://www.frontiersin.org/articles/10.3389/fneur.2021.806516/full |
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