Pitt-Hopkins-Like Syndrome 1 (PTHSL1)

Pitt-Hopkins-Like Syndrome 1, also known as cortical dysplasia-focal epilepsy syndrome, is related to pitt-hopkins-like syndrome 2 and pitt-hopkins syndrome. An important gene associated with Pitt-Hopkins-Like Syndrome 1 is CNTNAP2 (Contactin Associated Protein 2), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. Affiliated tissues include brain and eye, and related phenotypes are seizure and delayed speech and language development