Article
Dravet-like syndrome with PCDH19 mutations in Taiwan - A multicenter study.
Pediatrics and neonatology - 1 May 2025
Liu Yi-Hsuan, Liang Jao-Shwann, Chang Ming-Yuh, Hung Pi-Lien, Tsai Meng-Han, Chou I-Jun, Hou Ju-Yin, Lee Wang-Tso, Lin Kuang-Lin
Abstract excerpt
OBJECTIVE: Protocadherin-19 (PCDH19) epilepsy is a rare female restricted epilepsy syndrome with early onset seizures and developmental delay caused by a change or mutation of the PCDH19 gene on the X chromosome. SCN1A-negative patients with a Dravet-like phenotype may have a gene mutation in PCDH19. The aim of this case series was to characterize the phenotype of epileptic patients according to PCDH19 mutations,...
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