Case Report: Follow Up of a Patient with De Novo Mutation at Kcna2 Gene Leading to Ataxia and Epileptic Encephalopathy

Abstract

Background:The KCNA2 gene codifies a protein of the Kv1.2 potassium channel. Most of the last are express in the central nervous system, where they have an important role in the release of neurotransmitters and neural excitability. A mutation on this gene leads to a drastic over function with the permanent opening of the referred channel.Case presentation: A 13-year-old male child, was diagnosed in 2014 with a mutation on the KCNA2 gene during the investigation of ataxia and epileptic encephalopathy, discovering a new cause of neurodevelopmental disorder. A detailed description of the symptoms of the patient was obtained during his lifetime until the publication of this article. Conclusion:A new cause of neurodevelopmental disorder was found during an investigation of the epileptic encephalopathy and ataxia-the mutation in the KCNA2 gene-, as a detailed evolution of this syndrome.