Variant in CACNA1G as a Possible Genetic Modifier of Neonatal Epilepsy in an Infant with a De Novo SCN2A Mutation.

Autor:	Nieto-Barcelo JJ; Hospital Universitari i Politecnic La Fe, Valencia, Spain., Gonzalez Montes N; Pediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Gonzalo Alonso I; Pediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Martinez F; Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain., Aparisi MJ; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Martinez-Matilla M; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Marco Hernandez AV; Genomics Unit, Health Research Institute Hospital La Fe (IIS La Fe), Valencia, Spain., Tomás Vila M; Neuropediatrics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Jazyk:	angličtina
Zdroj:	Journal of pediatric genetics [J Pediatr Genet] 2021 Feb 19; Vol. 12 (2), pp. 159-162. Date of Electronic Publication: 2021 Feb 19 (Print Publication: 2023).
DOI:	10.1055/s-0041-1723958
Abstrakt:	Mutations in SCN2A genes have been described in patients with epilepsy, finding a large phenotypic variability, from benign familial epilepsy to epileptic encephalopathy. To explain this variability, it was proposed the existence of dominant modifier alleles at one or more loci that contribute to determine the severity of the epilepsy phenotype. One example of modifier factor may be the CACNA1G gene, as proved in animal models. We present a 6-day-old male newborn with recurrent seizures in which a mutation in the SCN2A gene is observed, in addition to a variant in CACNA1G gene. Our patient suffered in the first days of life myoclonic seizures, with pathologic intercritical electroencephalogram pattern, requiring multiple drugs to achieve adequate control of them. During the next weeks, the patient progressively improved until complete remission at the second month of life, being possible to withdraw the antiepileptic treatment. We propose that the variant in CACNA1G gene could have acted as a modifier of the epilepsy syndrome produced by the mutation in SCN2A gene in our patient. Competing Interests: Conflict of Interest None declared. (Thieme. All rights reserved.)
Databáze:	MEDLINE
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