Journal of Pediatric Epilepsy 2020; 09(01): 013-017
DOI: 10.1055/s-0039-3400237
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A De Novo KCNQ2 Genomic Variant in an Infant with Early Infantile Epileptic Encephalopathy

1  Department of Neurology, Hospital de Niños Dr. Roberto Gilbert Elizalde, Guayaquil, Ecuador
,
Melissa Coronel
2  School of Medicine, Universidad Católica de Santiago de Guayaquil, Guayaquil, Ecuador
,
Richard Vaca
2  School of Medicine, Universidad Católica de Santiago de Guayaquil, Guayaquil, Ecuador
,
Arianna Baquerizo
2  School of Medicine, Universidad Católica de Santiago de Guayaquil, Guayaquil, Ecuador
,
Rocío Sánchez-Carpintero
3  Pediatric Neurology Unit, Clínica Universidad de Navarra, Pamplona, Spain
› Author Affiliations
Further Information

Publication History

06 February 2019

03 October 2019

Publication Date:
13 November 2019 (online)

Abstract

Early infantile epileptic encephalopathies (EIEEs) constitute a group of severe early onset epilepsies. Although still classified under syndromic clusters of clinical features, the genetic basis of several EIEEs leads to the definition of new types of epilepsies. We report a newborn male with seizures since his second day of life. The results of the first line diagnostic tests did not identify the cause of the seizures, which prompted a genetic study. A de novo KCNQ2 genomic variant that may explain the neonatal epileptic encephalopathy was found and led to more appropriate treatment. Genetic testing allows more specific treatment and more accurate prognosis, and also adds to the database of the phenotypes associated with the genomic variants.