Genetische Epilepsien im Kindesalter. Exakte molekulare Diagnose als Basis für eine individuelle Therapie?

Stülpnagel, C. von und Kluger, G. (2021): Genetische Epilepsien im Kindesalter. Exakte molekulare Diagnose als Basis für eine individuelle Therapie? In: Monatsschrift Kinderheilkunde, Bd. 169, Nr. 9: S. 791-804

Abstract

Background Currently, epileptology almost exclusively uses drugs that act against seizures (anticonvulsants);however, these have little specific influence on the pathophysiology of the individual underlying epilepsy in the sense of antiepileptic drugs. This is the aim of the term molecular pediatrics. Methods The network for therapy of rare epilepsies (NETRE) is a large international network for the simple exchange of experience among clinicians on the therapy of children with very rare genetic epilepsies. Results NETRE has been in existence for 15 years and is divided into > 320 groups that cooperate with other research groups and self-help associations. Some examples of identifying clinical characteristics of new epilepsy genes are presented (e.g. Masticatory seizures in SYNGAP1). Genetic testing can help to avoid a diagnostic odyssey as well as false treatment or overtreatment of a patient. Genetic findings currently only lead to targeted treatment options in individual cases and these have so far only been based on limited evidence: e.g. sodium channel blockers for SCN2A mutations with a gain of function or statins for SYNGAP1 mutations. Epigenetic factors, such as early neuroimpaired twin entity (ENITE) are also significant in genetic epilepsies. Discussion The rapid progress in basic genetic research is tantamount to a paradigm shift in the understanding of the pathophysiology and clinical signs, especially in early-onset childhood epilepsies. Individualized treatment approaches are still rare at present. History taking, clinical examination and experience remain important. Ethical, psychological and economic aspects of a broad genetic diagnostics must be taken into account.

• Dokumententyp: Zeitschriftenartikel
• Fakultät: Medizin
• Themengebiete: 600 Technik, Medizin, angewandte Wissenschaften > 610 Medizin und Gesundheit
• ISSN: 0026-9298
• Sprache: Deutsch