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Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Clinical genetics - 1 Jan 2025

Khan Afrasiab, Muhammad Anees, Ullah Hidayat, Ambreen Hina, Ullah Abeed, May Patrick, Lerche Holger, Haack Tobias B, Rehman Shoaib Ur, Kegele Josua

Abstract excerpt

Next-generation sequencing is advancing in low- and middle-income countries, but accessibility remains limited. In Pakistan, many members of the Pashtun population practice familial marriage and maintain distinct socio-cultural traditions, isolating them from other ethnic groups. As a result, they may harbor genetic variants that could unveil new gene-disease associations. To investigate the genetic basis of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39400946
DOI: 10.1111/cge.14627
PMCID: PMC11608837

Genes

MOCS2
OPHN1
TSEN54

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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