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Chapter 6 - Genetic Epilepsies in Females

Published online by Cambridge University Press:  19 December 2024

By
Paula Teixeira Marques  and
Danielle M. Andrade
Edited by
Esther Bui  and
P. Emanuela Voinescu
Esther Bui
Affiliation:
Toronto Western Hospital
P. Emanuela Voinescu
Affiliation:
Brigham & Women's Hospital, Boston, MA
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Summary

Some epilepsy syndromes are more common in females such as genetic generalized epilepsy (GGE) including juvenile myoclonic epilepsy (JME). JME is also more frequently transmitted to offspring by the women affected with epilepsy than by men. Other epilepsy syndromes limited to females are frequently associated to pathogenic variants in genes located on the X chromosome such as Rett syndrome, CDKL5 deficiency disorder, subcortical band heterotopia, PCDH19 epilepsy and Aicardi syndrome. In this chapter we described these conditions and summarize the most relevant diagnostic features and treatment considerations. Recognizing these syndromes helps the clinician in selecting appropriate treatment, explains some spontaneous miscarriages and is a tool in counseling patients and family members about the risk of transmission. Genetic diagnosis can be made through several tests, with whole exome sequencing having the higher cost-effectiveness when compared to epilepsy panel and microarray. Treatment can be difficult and there might be some role for the use of Cannabidiol, Fenfluramine and Ganaloxone in some of these diseases. Advances in molecular genetics will likely lead to a better understanding of these epilepsy in women, and hopefully result in tailored precision medicine treatments.

Type
Chapter
Information
Women with Epilepsy
A Practical Management Handbook
 , pp. 101 - 121
Publisher: Cambridge University Press
Print publication year: 2025

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