Abstract
Genetic variants in KCNA2 (potassium voltage-gated channel subfamily A member 2) have been associated with a spectrum of symptoms such as epileptic encephalopathy, myoclonic seizures, intellectual disability, and cerebellar ataxia [ [1] Pena S.D. Coimbra R.L. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet. 2015; 87: e1-e3 Crossref PubMed Scopus (58) Google Scholar , [2] Perilli L. Mastromoro G. Murciano M. Amedeo I. Avenoso F. Pizzuti A. Guido C.A. Spalice A. Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants. Front Neurol. 2021; 12806516 PubMed Google Scholar ]. Individuals with KCNA2 gain-of-function genetic variants could benefit from tailored-treatment regimens [ [1] Pena S.D. Coimbra R.L. Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. Clin Genet. 2015; 87: e1-e3 Crossref PubMed Scopus (58) Google Scholar , [3] Hedrich U.B.S. Lauxmann S. Wolff M. Synofzik M. Bast T. Binelli A. Serratosa J.M. Martínez-Ulloa P. Allen N.M. King M.D. Gorman K.M. Zeev B.B. Tzadok M. Wong-Kisiel L. Marjanovic D. Rubboli G. Sisodiya S.M. Lutz F. Ashraf H.P. Torge K. Yan P. Bosselmann C. Schwarz N. Fudali M. Lerche H. 4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy. Science Translational Medicine. 2021; 13: eaaz4957 Crossref PubMed Scopus (0) Google Scholar ]. Here, we report a 2-year-old boy with early-onset drug refractory absence seizures and gait ataxia. The clinical exome sequencing revealed a gain-of-function genetic variant in the KCNA2 gene. The child responded remarkably well to acetazolamide and was seizure-free.
Published Version
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