Article
Complexity of Inheritance of Pathogenic Mutations Associated with Epilepsy in Consanguine Families from Pakistan.
Genes - 29 Jan 2026
Tahira Khajista, Ullah Anwar, Ullah Fazl, Aziz Jeena, Javed Muhammad Ishaq, Kiyani Aasma, Khanum Azra, Hallmann Kerstin, Baumgartner Tobias, Surges Rainer, Shaiq Pakeeza Arzoo, Kunz Wolfram S
Abstract excerpt
Background/Objectives: Consanguine families are helpful to identify recessive candidate genes for inherited diseases, but can also show an unusual inheritance pattern of pathogenic mutations. In this case series, we demonstrate this in five consanguine families with epilepsy from Pakistan. Methods: We performed whole exome sequencing of respective index patients, analyzed the data using two different models for...
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