PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum.

OBJECTIVE To characterize the features associated with PCDH19-related epilepsy, also known as "female-limited epilepsy." METHODS We analyzed data from participants enrolled in the PCDH19 Registry, focusing on the seizure-related, developmental, neurobehavioral, and sleep-related features. We evaluated variants for pathogenicity based on previous reports… CONTINUE READING