Developmental and epileptic encephalopathies

• Verfasst von: Syrbe, Steffen [VerfasserIn]
• Titel: Developmental and epileptic encephalopathies
• Titelzusatz: therapeutic consequences of genetic testing
• Verf.angabe: Steffen Syrbe
• E-Jahr: 2022
• Jahr: 22. September 2022
• Umfang: 10 S.
• Fussnoten: Gesehen am 22.11.2022
• Titel Quelle: Enthalten in: Medizinische Genetik
• Ort Quelle: Berlin : de Gruyter, 1998
• Jahr Quelle: 2022
• Band/Heft Quelle: 34(2022), 3, Seite 215-224
• ISSN Quelle: 1863-5490
• DOI: doi:10.1515/medgen-2022-2145
• Datenträger: Online-Ressource
• Sprache: eng
• Sach-SW: children
• Sach-SW: developmental and epileptic encephalopathy
• Sach-SW: monogenic etiology
• Sach-SW: precision treatment
• K10plus-PPN: 1823174558

Abstract

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.