A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy

A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy Publisher

Badv RS¹ ; Shariatmadari F^{1, 2} ; Bayat S³ ; Memarian S¹ ; Esteghamat Hanzae S¹ ; Yousefimanesh H¹

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1. Pediatrics Center of Excellence, Department of Pediatric Neurology, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Pediatric Neurology, Arak University of Medical Sciences, Arak, Iran
3. Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Egyptian Journal of Medical Human Genetics Published:2024

Abstract

Background: Progressive myoclonic epilepsy is a clinically and genetically heterogeneous group of diseases characterized by myoclonic seizures, drug-resistant epilepsy and neurodevelopmental regression. The disease is attributed to mutations in KCTD7 (a member of the potassium channel tetramerization domain). Case presentation: We report the case of a 6-year-old girl with compound heterozygous mutation in KCTD7. Whole-exome sequencing was carried out to detect the mutations followed by Sanger sequencing of the patient in addition to the unaffected parents which confirmed the diagnosis. The first mutation [c. 202A > G (p.Thr68Ala)] was inherited from mother and the second one [c. 458G > A (p.Arg153His)] was inherited from father. Conclusions: To our knowledge, this is the first report of compound heterozygousKCTD7-related progressive myoclonic epilepsy in Iran with c.202A > G in particular as a novel mutation. Our findings widen the scope of our knowledge of the underlying genetic etiology of the aforementioned disease which can further help us in the genetic diagnosis of these patients. © The Author(s) 2024.

Experts (# of related papers)

Ali Reza Tavasoli (1)

Reza Shervin Badv (1)

Style	Citing Format
MLA	Badv RS, et al.. "A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy." Egyptian Journal of Medical Human Genetics, vol. 25, no. 1, 2024, pp. -.
APA	Badv RS, Shariatmadari F, Bayat S, Memarian S, Esteghamat Hanzae S, Yousefimanesh H (2024). A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy. Egyptian Journal of Medical Human Genetics, 25(1), -.
Chicago	Badv RS, Shariatmadari F, Bayat S, Memarian S, Esteghamat Hanzae S, Yousefimanesh H. "A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy." Egyptian Journal of Medical Human Genetics 25, no. 1 (2024): -.
Harvard	Badv RS et al. (2024) 'A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy', Egyptian Journal of Medical Human Genetics, 25(1), pp. -.
Vancouver	Badv RS, Shariatmadari F, Bayat S, Memarian S, Esteghamat Hanzae S, Yousefimanesh H. A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy. Egyptian Journal of Medical Human Genetics. 2024;25(1):-.
BibTex	@article{ author = {Badv RS and Shariatmadari F and Bayat S and Memarian S and Esteghamat Hanzae S and Yousefimanesh H}, title = {A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy}, journal = {Egyptian Journal of Medical Human Genetics}, volume = {25}, number = {1}, pages = {-}, year = {2024} }
RIS	TY - JOUR AU - Badv RS AU - Shariatmadari F AU - Bayat S AU - Memarian S AU - Esteghamat Hanzae S AU - Yousefimanesh H TI - A Case of a 6-Year-Old Girl With a Rare Compound Heterozygous Mutation of Kctd7 Presenting With Progressive Myoclonic Epilepsy JO - Egyptian Journal of Medical Human Genetics VL - 25 IS - 1 SP - EP - PY - 2024 ER -

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