Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy

What this Trial Is About

Epileptic encephalopathies starting in the first months of life are rare, severe conditions associated with rapid loss of motor, cognitive, and behavioral skills. This research focuses on a specific genetic form called KCNQ2-related epileptic encephalopathy (KCNQ2-REE), caused by mutations in the KCNQ2 gene affecting brain excitability. Patients typically experience early-onset seizures with a distinctive EEG pattern and severe developmental challenges despite some seizure remission. The study involves creating a register of patients with neonatal-onset epileptic encephalopathy linked to KCNQ2 mutations. Data collection includes detailed clinical descriptions, EEG, imaging, developmental progress, and long-term follow-up characteristics. The main intervention is a survey using a structured questionnaire conducted through face-to-face interviews with parents or guardians. Participants and their families will provide information over time to help define the developmental disorder and epilepsy phases by 36 months of age. The study aims to better understand the clinical and molecular features, progression, and potential treatment approaches for this condition. The research involves ongoing observation without altering standard care, with data gathered primarily through interviews and medical evaluations.

Creation of a Register of Patients With Neonatal-onset Epileptic Encephalopathy