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Case Reports
. 2021 Feb 19;13(2):e13447.
doi: 10.7759/cureus.13447.

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy

Sai Chandar Dudipala  1   2 , Prashanthi M  2 , Amith Kumar Chennadi  2
Affiliations
Case Reports

A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy

Sai Chandar Dudipala et al. Cureus. .

Abstract

The progressive myoclonus epilepsy (PME) is a rare group of clinically and genetically heterogeneous disorders characterized by myoclonus, drug refractory epilepsy, and neurological deterioration. Here, we report a three-year-old female patient with neuroregression after a period of normal development and uncontrollable myoclonic seizures, which fulfill the criteria of PME. Next-generation sequencing revealed a novel homozygous mutation of variant c.173G>C in exon 2 of the KCDT7 (potassium channel tetramerization domain containing protein 7) gene that was compatible with the diagnosis of progressive myoclonic epilepsy 3 (PME3) with or without intracellular inclusions. This is a rare report of KCTD7 mutations causing PME in the Indian population. Our findings supported the important role of KCTD7 in PME and broadened the mutation spectrum.

Keywords: indian population; kcdt7 gene; progressive myoclonus epilepsy.

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Conflict of interest statement

The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Magnetic resonance imaging (MRI) of the patient's brain
(A) Axial T2-weighted image showing normal findings when the patient was one year old. (B) MRI of the brain showing diffuse atrophy when the patient was three years old.
See this image and copyright information in PMC

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