Sebastian Ortiz’s Research

Sebastian Ortiz primarily focuses on a deep phenotypic evaluation of patients with GABAAR variations. This involves a comprehensive investigation of all signs and symptoms they may have, including epilepsy, cognitive profiles, behavioral disorders, movement disorders, and sleep disturbances. The purpose of this research is to gather solid evidence to correctly recognize, diagnose, and treat patients with these variations.

Additionally, Sebastian Ortiz researches EEG features that can contribute to diagnosis from a neurophysiological perspective. This will help pediatricians, geneticists, and neurophysiologists recognize these diseases.

Furthermore, Sebastian Ortiz plans to develop a patient/doctor portal where all professionals involved in the care of these patients can find information about this condition. This initiative aims to facilitate information exchange and collaboration among various community members involved in treating patients with GABAAR variations.

Research Areas

• Deep phenotypic evaluation of patients with GABAAR variations
• EEG