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Idiopathische generalisierte Epilepsien und Fotosensitivität

Klinik und Genetik

Idiopathic generalized epilepsies and photosensitivity

Clinical and genetic factors

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Zusammenfassung

Die idiopathischen/genetischen Epilepsien machen einen großen Teil der Epilepsien im Kindes- und Jugendalter aus. Die klassischen Formen, die kindliche sowie die juvenile Absenceepilepsie, die juvenile myoklonische Epilepsie und die Aufwachepilepsie mit GTKA haben überwiegend ein gutes psychosoziales Outcome und können mit Valproinsäure und Ethosuximid als Mittel der ersten Wahl sowie Levetiracetam, Lamotrigin, Topiramat und Perampanel behandelt werden. Die einzelnen Subtypen der IGE zeichnen sich durch einen definierten Beginn der Anfälle mit Bindung an das Kindes-, Jugend- oder Adoleszentenalter, typische generalisierte Anfallstypen, typische Auffälligkeiten im EEG, eine normale zerebrale Kernspintomografie und eine häufig normale psychomotorische Entwicklung aus. Hauptsächlich werden komplex genetische Störungen vermutet. Hierbei konnten insbesondere strukturelle genetische Veränderungen wie copy number variations (CNVs) vor allem der Loci 15q13.3, 15q11 und 16p13 als Risikofaktor identifiziert werden. Mutationen in Genen für einen T‑Typ Kalzium- (CACNA1H) und einen P/Q-Typ Kalziumkanal (CACNAB4, CACNA1A) werden ebenfalls mit als Entstehungsfaktor für IGE vermutet. Selten können monogenetische Defekte als Hauptursache für eine Epilepsie nachgewiesen werden. Oft sind diese mit weiteren Symptomen wie Ataxie, Bewegungsstörungen und mentaler Entwicklungsverzögerung assoziiert. Hier sind vor allem Mutationen in GABAA-Rezeptoren- und in GLUT1-Genen (SLC2A1) zu nennen.

Die Fotosensitivität ist häufig mit IGE assoziiert, kann jedoch auch unabhängig vorkommen. Auch hier wird eine genetische Ursache diskutiert, als wichtiges Kandidatengen wurde bisher CHD2 gefunden.

Abstract

Idiopathic/genetic epilepsies (IGE/GGE) represent a large group among epilepsies of childhood and adolescence. The typical subtypes, childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, and epilepsy with generalized tonic–clonic seizures on awakening, showed a favourable psychosocial outcome in the majority of cases. They can be treated with valproic acid and ethosuximide as first-line medication, and levetiracetam, lamotrigine, topiramate and perampanel. Each subtype of IGE/GGE is defined by its specific age of onset (childhood or adolescence) and type of generalized seizures, typical findings on the EEG, a normal cerebral MRI and often normal psychomotor development. In the underlying cause of these epilepsies complex genetic defects are believed to play a major role, namely structural genetic variation. For example, copy number variations in loci 15q13.3, 15q11 and 16p13 could be identified as one risk factor. Mutations in calcium channel genes (namely T-type calcium channel, CACNA1H, and P/Q-type calcium channel, CACNAB4 and CACNA1A) seem to take part in the pathomechanism of IGE. Monogenetic defects are seldom found to be the main cause of epilepsy. These monogenetic defects, mainly in the GABAA-receptor- and GLUT1 genes (SLC2A1), are often associated with other symptoms such as ataxia, movement disorders and mental retardation.

Photosensitivity is often seen in IGE, but can also occur without IGE. A genetic cause is also assumed; one of the most important candidate genes is CHD2.

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Authors and Affiliations

  1. Abt. für Neurologie mit Schwerpunkt Epileptologie, Zentrum für Neurologie, Hertie-Institut für Klinische Hirnforschung, Universität Tübingen, Hoppe-Seyler-Str. 3, 72076, Tübingen, Deutschland

    N. Winter &  H. Lerche

  2. Klinik für Neuropädiatrie, Christian-Albrechts-Universität zu Kiel, Kiel, Deutschland

    H. Muhle

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Correspondence to H. Lerche.

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N. Winter, H. Muhle und H. Lerche geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet als Übersicht keine eigenen Originalstudien an Menschen oder Tieren. Bezüglich solcher Studien aus den zitierten Arbeiten wird auf diese verwiesen.

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Winter, N., Muhle, H. & Lerche, H. Idiopathische generalisierte Epilepsien und Fotosensitivität. Z. Epileptol. 29, 63–69 (2016). https://doi.org/10.1007/s10309-015-0033-2

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