Tehran University of Medical Sciences Researchers Yield New Study Findings on Progressive Myoclonic Epilepsy (A case of a 6-year-old girl with a rare compound heterozygous mutation of KCTD7 presenting with progressive myoclonic epilepsy).

Researchers at Tehran University of Medical Sciences have identified a rare compound heterozygous mutation of KCTD7 in a 6-year-old girl with progressive myoclonic epilepsy. This case study, published in the Egyptian Journal of Medical Human Genetics, highlights the genetic complexity of the disease and emphasizes the importance of genetic diagnosis for patients. The findings contribute to our understanding of the underlying genetic causes of progressive myoclonic epilepsy, particularly in Iran. [Extracted from the article]