NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder

This study reports a novel NAV3 variant in association with autosomal recessive NDD, and contributes to the growing evidence that NAV3 plays a crucial role in human neurodevelopment. Functional validation and identification of additional patients will be essential to establish definitive genotype-phenotype correlations and uncover the mechanistic pathways underlying NAV3-associated disorders.

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Publication Details

Journal
Current Medicinal Chemistry
Published
2025-07-24
DOI
https://doi.org/10.2174/0109298673367919250626005640
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder

Najumuddin, Majid Alfadhel, Muhammad Bilal, Muhammad Umair et al.
Current Medicinal Chemistry
Genomics and Rare Diseases
article

NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder

Najumuddin, Majid Alfadhel, Muhammad Bilal, Muhammad Umair, Ishtiaq Ahmed, Anwar Ullah, Gohar Zaman, Fazl Ullah
article en

Abstract

This study reports a novel NAV3 variant in association with autosomal recessive NDD, and contributes to the growing evidence that NAV3 plays a crucial role in human neurodevelopment. Functional validation and identification of additional patients will be essential to establish definitive genotype-phenotype correlations and uncover the mechanistic pathways underlying NAV3-associated disorders.

Current Medicinal ChemistryVol. 32
Aga Khan University (PK), King Saud bin Abdulaziz University for Health Sciences (SA), Hamdard University (PK), Pir Mehr Ali Shah Arid Agriculture University (PK), Khyber Medical University (PK), Lady Reading Hospital (PK), King Abdulaziz Medical City (SA), Abbottabad University of Science and Technology (PK), King Abdullah International Medical Research Center (SA), Pakistan Telecommunication Company (Pakistan) (PK), National Guard Health Affairs (SA)
Good health and well-being
Openalex Percentile: Top 79%
Genomics and Rare Diseases
DOIOpen Access PDFOpenAlex
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NAV3 Missense Variant in a Homozygous State: Strengthening Links to Neurodevelopmental Disorder — Najumuddin, Majid Alfadhel, et al. · Current Medicinal Chemistry (2025) | TGRS Research Map | TGRS