Introduction:

Epileptic and developmental encephalopathies, related to voltage-associated calcium channel mutations, are heterogeneous entities recently described in pediatric population.

Objective:

To describe the case of pediatric patient with epileptic and developmental encephalopathy caused by a mutation in the CACNA1E gene that codes for a calcium channel.

Clinical case:

Preschool male patient with refractory epilepsy starting at two months of life, associated with global developmental delay, behavioral disorder, hyperkinetic movements (dystonia) and hypotonia, with multifocal interictal activity and normal brain resonance, with pathogenic mutation in the gene CACNA1E.

Conclusion:

Mutations in the CACNA1E gene cause functional alteration of the calcium channel CaV2.3, originating a clinical picture of a recently described phenotype.