1. Familial mesial temporal lobe epilepsy in Mexico: Inheritance pattern and clinical features
- Author
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Ana Luisa Velasco, Carlos A. Venegas-Vega, Mariana Alejandre Sánchez, Jaime Berumen Campos, and Diana E. Guzmán-Jiménez
- Subjects
Adult ,Male ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Genotype ,Inheritance Patterns ,Disease ,03 medical and health sciences ,Inheritance (object-oriented programming) ,Epilepsy ,0302 clinical medicine ,medicine ,Humans ,In patient ,Statistical analysis ,Mexico ,Family Health ,business.industry ,Electroencephalography ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,Pedigree ,Phenotype ,030104 developmental biology ,Epilepsy, Temporal Lobe ,Neurology ,Child, Preschool ,Mutation ,Déjà vu ,Female ,Neurology (clinical) ,business ,030217 neurology & neurosurgery ,Mesial temporal lobe epilepsy - Abstract
Purpose The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics and the inheritance pattern. Method We included a total of 25 families with two or more members affected with MTLE during two years and elaborated a family pedigree for each family. The inheritance pattern was classified as autosomal dominant (AD) or autosomal recessive (AR), considering the affected members. We used statistical analysis association and differences between clinical characteristics and inheritance patterns. Results The affected families with the AD pattern were 15.7 fold times more likely to start seizures at 5 years of age or earlier than families with AR pattern, OR = 15.7 (IC 95% = 1.9-128.9). We observed a predominance and greater deja vu association (64.4% vs 31.3%; p = 0.021), OR = 3.9 (CI 95% = 1.1-13.5) in patients with AD versus AR pattern. Finally, we identified that patients with AD pattern had a likelihood of presenting emotional alterations 5.6 times higher than AR (OR = 5.6, IC = 1.1-27.5). Conclusion FMTLE is a heterogeneous syndrome, both phenotypically and genotypically; thus, our findings may be helpful for clinical use to perform an early diagnosis, to provide timely treatment, and to prevent comorbidities associated to this disease. However, in order to identify the possible genetic causes underlying these inheritance patterns, the use of molecular studies is necessary.
- Published
- 2020
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