Case Report: Follow Up of a Patient with De Novo Mutation at Kcna2 Gene Leading to Ataxia and Epileptic Encephalopathy by Zanluchi VBS in Advancements in Case Studies_ Advancements in Case Studies
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.
Introduction
Most of the voltage-dependent potassium channels are expressed in the central nervous system, with an important role in the neuronal excitability and release of neurotransmitters. Mutations on the KCNA2 gene leads to hyperexcitability or electrical silencing of the neurons expressing the Kv1.2 protein [1]. The first report in the literature showing the KCNA2 gene as a cause of disease in humans was made by Pena [2]. The discovery was made after exome sequencing of a 7-year-old male child. Before that, it was known that the mutation of the same gene in murines leads to ataxia and epilepsy. It is extremely important to say that the same patient of the study published by Pena [2] is the patient of this case report. After the prementioned publication, a series of other case reports related the mutation on the KCNA2 gene with epileptic encephalopathy and ataxia in other patients. A single study in Europe encountered this mutation in seven patients [1]. About sixteen [1-7] patients have been diagnosed with a de novo mutation in the KCNA2 gene around the world and seven patients (all members of the same family) [7] were found to have a deletion in this gene leading to a dominant autosomal pattern of inheritance causing a similar neurological syndrome but with normal intellect. Although the mutation in the KCNA2 gene been recently discovered, its functional consequences in the organism are not fully understood. Therefore, it is relevant long term follows up of the patients with this disease to better understand the manifestations of this syndrome. Thus, this case report provides a better understanding of its pathophysiology, chronological evolution, and drug treatment of the patient
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