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PCDH19-related epilepsy is a serious and rare epileptic syndrome characterized by highly variable early-onset cluster seizures with comorbid cognitive and behavioral disturbances with or without intellectual disability.
PCDH19-related epilepsy is caused by a mutation in the PCDH19 gene. There is indirect evidence linking progesterone and allopregnanolone to the onset and offset of seizures in girls with PCDH19-related epilepsy.
About 1 in 10 girls that begin having seizures before the age of 5 has PCDH19-related epilepsy. The features of PCDH19-related epilepsy can overlap or look similar to the features in Dravet Syndrome. It is estimated that there are approximately 10,000-12,000 children with PCDH19-related epilepsy in the United States.