Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants

This study highlights the value of WES in identifying genetic variants associated with epilepsy, particularly the novel AP3B2 and PIGB variants. By focusing on these impactful findings, the study advances understanding of epilepsy genetics and emphasizes the role of WES in enabling early diagnosis, personalized treatment, and improved management strategies.

Authors

Pooyan Alizadeh (ORCID: https://orcid.org/0000-0002-4490-9553)
Masoud Zeinali (ORCID: https://orcid.org/0000-0002-3350-3275)
Mostafa Neissi (ORCID: https://orcid.org/0000-0002-9359-2054)
Armin Jahangiri Babadi (ORCID: https://orcid.org/0000-0003-0718-399X)
Nemat Ghadiri

Institutions

Ahvaz Jundishapur University of Medical Sciences (IR)
Noor Eye Hospital (IR)
Islamic Azad University, Ahvaz Branch (IR)

Publication Details

Journal: Practical Laboratory Medicine
Published: 2025-03-19
DOI: https://doi.org/10.1016/j.plabm.2025.e00462
Citations: 3
Primary Topic: Genomics and Rare Diseases
Type: article
Field-Weighted Citation Impact: 5.45

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article

Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants

Pooyan Alizadeh, Masoud Zeinali, Mostafa Neissi, Armin Jahangiri Babadi et al.

Mar 19, 2025

3 citations

Practical Laboratory Medicine

Genomics and Rare Diseases

5.45

article

Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants

Pooyan Alizadeh, Masoud Zeinali, Mostafa Neissi, Armin Jahangiri Babadi, Nemat Ghadiri

March 19, 2025article en

3 citations

Abstract

This study highlights the value of WES in identifying genetic variants associated with epilepsy, particularly the novel AP3B2 and PIGB variants. By focusing on these impactful findings, the study advances understanding of epilepsy genetics and emphasizes the role of WES in enabling early diagnosis, personalized treatment, and improved management strategies.

Practical Laboratory MedicineVol. 45

Ahvaz Jundishapur University of Medical Sciences (IR), Noor Eye Hospital (IR), Islamic Azad University, Ahvaz Branch (IR)

Openalex Percentile: Top 5%

Genomics and Rare Diseases

5.45

DOI Open Access PDF OpenAlex

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Gene variant analysis in pediatrics with early-onset epilepsy: Identification of novel variants — Pooyan Alizadeh, Masoud Zeinali, et al. · Practical Laboratory Medicine (2025) | TGRS Research Map | TGRS