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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