New epilepsy genes involved in epigenetics – a survey

A growing number of genes have been identified to be causative for genetic forms of epilepsy, which are neither ion channels, receptors nor other classical epilepsy genes but epigenetic players. The epigenetic enzymes and effector proteins described to be mutated in inherited genetic epilepsies as well as epileptic encephalopathies, intellectual disability syndromes and autism spectrum disorders with associated severe or occasional seizure phenotype are of various function. Since this function never seems to be sufficiently discussed in the respective publications and little is to be found on how these genes may be linked to the phenotype, here comes a little overview summarizing how epigenetics is contributing not only to symptomatic focal epilepsy but may also help to explain the phenotypic heterogeneity of genetic epilepsies.

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To do: read ENCODE papers

ENCODE will change the way we analyse genomes. The comparison of long non-coding RNA and transcription factor binding sites will require more CPU time. Anything else? I don’t know, I am only writing this because Ingo asked me to. It’ll take time to study the 30+ papers, sift through the data and discuss it with colleagues. Only then, something like that understanding we hear so much about can happen and I am sure it will in journal clubs around the globe in the next weeks. But smaller things might already be interesting.

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