Multicenter retrospective study of patients with PCDH19-related epilepsy: The first Hungarian cohort.
Monika KovacsAndras FogarasiMarta HegyiZsuzsanna SieglerAnna KelemenMonika MellarAnna OrbokGabor SimonKristof FarkasMonika BessenyeiKatalin HollodyPublished in: Epileptic disorders : international epilepsy journal with videotape (2024)
The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.