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Elements in Genetics in Epilepsy

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Editor: Professor Annapurna Poduri

Recent advances in epilepsy genetics have revealed numerous monogenic epilepsies in which dysfunction of a single gene product leads to epilepsy, collectively accounting for a substantial portion of otherwise unexplained epilepsies. Through collaborative efforts to study more broadly the role of genetics in the epilepsies, as well as those of individual laboratories, the number of genes associated with epilepsy has steeply risen to several hundred, with clinical labs now offering whole exome sequencing for patients with epilepsy as well as targeted epilepsy gene panels with ever-growing lists of genes; integrating clinical epilepsy genetics and basic laboratory research, with translation between the clinical and research realms, driving the field towards more precise and effective treatment.

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