Overlap Between Epilepsy and Neurodevelopmental Disorders: Insights from Clinical and Genetic Studies

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Hitomi Shimizu, MD, PHD
Yoshiro Morimoto, MD, PHD
Naoki Yamamoto, MD, PHD
Tatsuyuki Tayama, MD, PHD
Hiroki Ozawa, MD, PHD
Akira Imamura, MD, PHD


Patients with epilepsy often experience comorbid cognitive and behavioral problems. These problems are often caused by neurodevelopmental disorders such as autism spectrum disorder and attention-deficit hyperactivity disorder. Although the etiology of epilepsy is unclear in many patients, there is increasing evidence for the existence of genetic traits common to both epilepsy and neurodevelopmental disorders. These include chromosomal abnormalities, copy number variations, and single gene diseases. This chapter examines several genetic disorders that may underlie epilepsy and several neurodevelopmental disorders. There is substantial evidence that the same gene mutations are associated with both epilepsy and neurodevelopmental disorders. Alternative biological models are considered that could explain the association and causal links between the two disorders. It is likely that epilepsy and neurodevelopmental disorders both lie on a single continuum, and that greater understanding of the overlap between these disorders and epilepsy would help to provide more tailored interventions.


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