Importance of pedigree in patients with familial epilepsy and intellectual disability

Hüseyin Çaksen; Fesih Aktar; Gökçen Yıldırım; Serdar Ceylaner

doi:10.24911/SJP.106-1536222362

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Sudan J Paed. 2019; 19(1): 52-56

doi: 10.24911/SJP.106-1536222362

Importance of pedigree in patients with familial epilepsy and intellectual disability

Hüseyin Çaksen, Fesih Aktar, Gökçen Yıldırım, Serdar Ceylaner.

Abstract
In this study, we prospectively evaluated demographic characteristics, clinical findings and pedigree patterns in 70 patients with familial epilepsy and/or intellectual disability (ID)/global developmental delay (GDD) and/or motor retardation but without specific etiologic diagnosis to determine genetic inheritance patterns by using at least a 3-generation pedigree analysis to determine genetic inheritance patterns by using a comprehensive pedigree analysis. Mean age of the patients was 6.85±3.93 years and male/female ratio was 1.50. There was consanguinity between the parents of 47 (67.1%) patients. Only epilepsy was diagnosed in 14 patients; only ID/GDD in 22; epilepsy and ID/GDD in 9; epilepsy and ID/GDD and motor retardation in 25 patients. Genetic inheritance pattern was definitely determined in 60 (85.7%) patients, and most of patients (61.4%) displayed autosomal recessive inheritance. Based on our findings, we suggest that a 3-generation pedigree analysis should be obtained in all patients with familial neurological disorders including epilepsy, ID/GDD, and motor retardation etc., to optimize counseling, screening, and diagnostic testing.

Key words: Pedigree; Familial epilepsy; Intellectual disability

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Pubmed Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. 2019; 19(1): 52-56. doi:10.24911/SJP.106-1536222362

Web Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. https://sudanjp.com//?mno=7109 [Access: June 21, 2024]. doi:10.24911/SJP.106-1536222362

AMA (American Medical Association) Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. 2019; 19(1): 52-56. doi:10.24911/SJP.106-1536222362

Vancouver/ICMJE Style

Caksen H, Aktar F, Yıldırım G, Ceylaner S, . Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed. (2019), [cited June 21, 2024]; 19(1): 52-56. doi:10.24911/SJP.106-1536222362

Harvard Style

Caksen, H., Aktar, . F., Yıldırım, . G., Ceylaner, . S. & (2019) Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudan J Paed, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362

Turabian Style

Caksen, Huseyin, Fesih Aktar, Gokcen Yıldırım, Serdar Ceylaner, and . 2019. Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362

Chicago Style

Caksen, Huseyin, Fesih Aktar, Gokcen Yıldırım, Serdar Ceylaner, and . "Importance of pedigree in patients with familial epilepsy and intellectual disability." Sudanese Journal of Paediatrics 19 (2019), 52-56. doi:10.24911/SJP.106-1536222362

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Caksen, H., Aktar, . F., Yıldırım, . G., Ceylaner, . S. & (2019) Importance of pedigree in patients with familial epilepsy and intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 52-56. doi:10.24911/SJP.106-1536222362

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