Genetics in Epilepsy: Transcultural Perspectives

Abstract

Summary:In the last two decades there have been many significant advances with regard to the genetics of human epilepsies. Knowledge of the mutations responsible for inherited human epilepsies not only will help in a better diagnosis and understanding of the mechanisms involved in epileptogenesis and their inheritance, but also will result in the development of better and safer antiepileptic drugs, discovery of novel therapeutic modalities, improved genetic counseling, and perhaps even prevention of epilepsies. The overall impact of these genetic discoveries across different populations and cultures will perhaps be beneficial to improving the lives of the millions affected by these diverse but common brain disorders.

Training and workforce: an expert panel presents a new approach to epilepsy in the tropics

“…Furthermore, epilepsy often has profound physical, psychological, and social consequences because seizures may cause misunderstanding, fear, secrecy, stigmatization, and social isolation (3,10). All facts reported above have been confirmed by the ILAE's reports, reinforcing the hypothesis that the psychosocial effects experienced by persons with epilepsy are not always a consequence of the course of the disease but often result from discrimination and misconceptions about this condition (11). …”

Knowledge about and attitude towards epilepsy among Menit Community, Southwest Ethiopia

“…Lack of knowledge about the causes of epilepsy has been associated with negative attitudes, beliefs, and stigma (4,8,13). Lack of understanding about epilepsy is a leading cause of discrimination in the workplace and in schools (14).…”

Early-Onset Developmental and Epileptic Encephalopathies of Infancy: An Overview of the Genetic Basis and Clinical Features

“…3 Approximately 40% of epilepsy cases have a genetic etiology, and Mendelian inheritance constitutes 1% of these cases. 4,5 Genetic discovery has led to the recognition of several forms of genetic epileptic encephalopathies, which often have their onset in infancy. The term epileptic encephalopathy refers to the condition when the epileptic activity itself contributes to severe cognitive and behavioral impairment, above what is expected from the underlying pathology, and the developmental consequences may improve with the amelioration of the epileptiform activity.…”