Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review

Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review Publisher Pubmed

Binaafar S¹ ; Garshasbi M² ; Tavasoli AR³ ; Badv RS⁴ ; Hosseiny SMM³ ; Samanta D⁵ ; Rabbani B¹ ; Mahdieh N^{1, 6}

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1. Growth and Development Research Center, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
3. Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
4. Children's Hospital Center, Pediatric Center of Excellence, Tehran University of Medical Center, Tehran, Iran
5. Child Neurology Section, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR, United States
6. Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, Tehran, Iran

Source: Developmental Neuroscience Published:2021

Abstract

Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other clinical symptoms and signs. We study the genotype and phenotype of patients with nonsyndromic early-onset epileptic encephalopathy (NSEOEE) and report 2 novel patients from Iran. A comprehensive search was conducted in PubMed, John Willy, Springer, Elsevier, and Google Scholar databases to collect related information of all the previously reported cases with KCTD7 mutations. Fifty-four patients (from 40 families) were investigated. Using trio-whole-exome sequencing (trio-WES) and Sanger sequencing, the possible genetic causes of the disorder were checked. The probable impacts of the identified variants on the KCTD7 protein structure and function were predicted. This study provided a detailed overview of all published KCTD7 mutations and 2 de novo ones. We identified 2 novel homozygous variants of uncertain significance, c.458 G > A p. Arg153His and c.529C > T (p.Arg177Cys), in KCTD7 (NM_153033.4) (Chr7(GRCh37)). There is a significant wide distribution of the KCTD7 gene causing NSEOEE among different populations. In conclusion, KCTD7 mutations demonstrate a diverse geographical distribution alongside a wide range of ethnicities. This highlights the importance of careful consideration in the WES data analysis. Mutations of this gene may be a common cause of NSEOEE. Also, this study imprints targeted therapeutic opportunities for potassium channelepsies such as KCTD7-related NSEOEE. © 2021 S. Karger AG, Basel.

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Style	Citing Format
MLA	Binaafar S, et al.. "Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review." Developmental Neuroscience, vol. 43, no. 6, 2021, pp. 348-357.
APA	Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N (2021). Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review. Developmental Neuroscience, 43(6), 348-357.
Chicago	Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, Rabbani B, Mahdieh N. "Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review." Developmental Neuroscience 43, no. 6 (2021): 348-357.
Harvard	Binaafar S et al. (2021) 'Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review', Developmental Neuroscience, 43(6), pp. 348-357.
Vancouver	Binaafar S, Garshasbi M, Tavasoli AR, Badv RS, Hosseiny SMM, Samanta D, et al.. Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review. Developmental Neuroscience. 2021;43(6):348-357.
BibTex	@article{ author = {Binaafar S and Garshasbi M and Tavasoli AR and Badv RS and Hosseiny SMM and Samanta D and Rabbani B and Mahdieh N}, title = {Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review}, journal = {Developmental Neuroscience}, volume = {43}, number = {6}, pages = {348-357}, year = {2021} }
RIS	TY - JOUR AU - Binaafar S AU - Garshasbi M AU - Tavasoli AR AU - Badv RS AU - Hosseiny SMM AU - Samanta D AU - Rabbani B AU - Mahdieh N TI - Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel Kctd7 Pathogenic Variants and a Literature Review JO - Developmental Neuroscience VL - 43 IS - 6 SP - 348 EP - 357 PY - 2021 ER -

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