Developmental and epileptic encephalopathies – therapeutic consequences of genetic testing

• Published in: Medizinische Genetik 2022-10, Vol.34 (3), p.215-224
• Main Author: Syrbe, Steffen
• Format: Article
• Language: English
• Subjects: children; developmental and epileptic encephalopathy; monogenic etiology; precision treatment
• ISSN: 0936-5931; 1863-5490
• DOI: 10.1515/medgen-2022-2145

Developmental and epileptic encephalopathies comprise a heterogeneous group of monogenic neurodevelopmental disorders characterized by early-onset seizures, marked epileptic activity and abnormal neurocognitive development. The identification of an increasing number of underlying genetic alterations and their pathophysiological roles in cellular signaling drives the way toward novel precision therapies. The implementation of novel treatments that target the underlying mechanisms gives hope for disease modification that will improve not only the seizure burden but also the neurodevelopmental outcome of affected children. So far, beneficial effects are mostly reported in individual trials and small numbers of patients. There is a need for international collaborative studies to define the natural history and relevant outcome measures and to test novel pharmacological approaches.