Clinical characteristics of 80 subjects with KCNQ2-related encephalopathy: Results from a family-driven survey

• Published in: Epilepsy & behavior Vol. 142; p. 109153
• Main Authors: Cossu, A., Lo Barco, T., Proietti, J., Dalla Bernardina, B., Cantalupo, G., Ghobert, L., Brambilla, I., Giarola, E., Costa, A., De Benito, T., Bethge, S., Cardot, S., Montwill, Iga, Remonato, E., Gramaglia, S., Darra, F.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.05.2023
• Subjects: Brain Diseases - complications; Brain Diseases - epidemiology; Caregiver; Child; Child, Preschool; Electroencephalography; Encephalopathy; Epilepsy; Epilepsy - drug therapy; Humans; Infant, Newborn; KCNQ2; KCNQ2 Potassium Channel - genetics; Male; Mutation; Neonatal seizures; Outcome; Phenotype; Severity; Surveys and Questionnaires; Neonatal seizures; Phenotype; Encephalopathy; Outcome; Epilepsy; KCNQ2; Caregiver; Severity

•Clinical features from the largest cohort of KCNQ2-DEE patients.•Comorbidities defined and collected with the collaboration of caregivers.•Patients divided by severity via cluster analysis regardless of epilepsy phenotype.•Groups with different severity had different epilepsy onset and course.•Repo...