Noor Badshah, Sohail Ahmad, Sher Hayat Khan, Shakoor Ahmad Qureshi, Muhammad Tahir Sarwar.
Epilepsy in the consanguineous families at tribal society of Khyber Pakhtunkhwa Pakistan.
J Med Sci Jan ;30(1):32-6.

Consanguineous marriages are practiced worldwide but very common as social characteristic norms of the tribal society of Pakistan and have reached (63%). Couples are married within the blood relatives, inheriting different genetic disorders including epilepsy in their offspring. Objectives: The present work is the ever first attempt to reaffirm the association between epilepsy disease (ED) and consanguinity in the Tribal Society of Khyber Pakhtunkhwa-Pakistan. Methodology: Approximately, 150 clinically diagnosed epileptic patients of consanguineous families aging around 20 years were included. Children in this study were aging 7-10 years and male to female ratio among the patients was 1:1.5. The target familial cases were included based on sex, age, parental consanguinity, seizure type, cause of epilepsy, and family history. The parents were interviewed to collect the required information after informed consent. Non-consanguineous families, patients with acquired causes, and those who were not willingly participated were excluded from the study. Results: Statistical analysis while applying Odds Ratio (OR), Z-test, and Chi-Square, showed significant findings (P< 0.01). For the first and second-degree cousins, the Odds Ratio and its 95% confidence interval (CI) were done. In the current study, the consanguinity in parents of epileptic patients was compared with the general population. Generally, 56 (37.33%) of the patient`s parents were first cousins with (OR=3.245 and 95%-CI=2.26-4.645 and P<0.0001), 24 (16.00%) were second-degree cousins with (OR=3.269 and 95%-CI=2.032-5.258 and P<0.0001) and 70 (46.66%) were unrelated. Conclusion: The overall consanguinity parentage with (OR=3.252 and 95%-CI=2.345-4.510 and P<0.0001) clearly indicates the potential role of heritage lineage/consanguinity in epilepsy within the consanguineous families. The present statistical study supports genetic counseling before marriages. More significant genotype-phenotype correlation is also needed to minimize the risk of epilepsy disease.

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