ArticleCureus2021
A Novel Mutation in KCDT7 Gene in an Indian Girl With Progressive Myoclonus Epilepsy.
Article in Cureus, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed, 8 citations in OpenAlex.
- Genetic insights into progressive myoclonic epilepsies: A case study ofEpilepsy & behavior reports · 2025Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Kctd7 deficiency induces myoclonic seizures associated with Purkinje cell death and microvascular defects.Disease models & mechanisms · 2022Article
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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