Epilepsy Genetics: Advancements in the Field and Impact on Clinical Practice

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Senyene E. Hunter, MD, PHD
Elizabeth Jalazo, MD
Thomas R. Felton, MS, CGC
Erin L. Heinzen, PHARMD, PHD
Yael Shiloh-Malawsky, MD


During the first decade of the 21st century, the landscape of epilepsy genetics started to take shape with the discovery of many new genes linked to epilepsy. These genetic discoveries advanced our understanding of the molecular and cellular pathways involved in epilepsy. Over the following ten years, the availability of clinical genetic testing along with rapidly growing knowledge of epilepsy genetics transformed patient care; most profoundly affecting management of childhood-onset epilepsies. This new genomic era offers great opportunities for the advancement of health outcomes and epilepsy research. It has also created new demands and challenges for physicians practicing in this rapidly evolving field, which requires specialized expertise in order to provide best care for patients and their families. This chapter reviews epilepsy genetics advancements and its impact on clinical practice.


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Chapter 3