The rolandic epilepsy, the most common form of childhood epilepsy is probably due to a common developmental disorder of the brain. This is in the results of an international group of researchers in the European Journal of Human Genetics (2009, doi: 10.1038/ejhg.2008.267) close.
The rolandic epilepsy begins in Ages 3 to 12 years. The attacks typically set in the morning just after waking. The children complain of paraesthesia of the lip, tongue and palate. It comes to a perioral twitching and a distortion of the lips and cheeks. In the attack, the children can not speak or swallow. There is a strong flow of saliva.
The rolandic epilepsy is benign in most cases. At the age of 12 to 14 years are virtually free of seizures all concerned with and without treatment. Typical of the disease are zentrotemporale spikes in the EEG.
Like many other seizure disorders, the rolandic epilepsy a strong genetic component, which called the group to Deb Pal from Columbia University in New York to a genome-wide linkage study prompted that led to the discovery of a locus on chromosome 11p13.
is where the gene for the Elongator complex protein 4 (ELP4) localized. ELP4 belongs to a group of parent genes that affect the reading of other genes (transcription regulator). It was not yet brought himself to human disease related, but a number of minor genes are known to be a possible cause of epilepsy.
The association with ELP4 is a surprise. Actually, the researchers had expected to encounter a gene that functions as a specific ion channel interfere, for herein is commonly the cause of epilepsy suspected.
The present discovery shows that the rolandic epilepsy is not a disease of an ion channel, but rather a disorder of neuronal connections.
This could explain why the disease grows in most children. If the results should be confirmed by other study groups, we will examine in the next step, whether children have with other related developmental disorders similar genetic disorder.
Among the disturbances, attention deficit, Sprachdyspraxien and developmental coordination disorder. These children often found the same EEG changes wie bei der Rolando-Epilepsie und der Nachweis der gleichen Gendefekte würde natürlich die Vermutung verstärken, dass es sich um verwandte Erkrankungen handelt
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Abstract der Studie http://www.nature.com/ejhg/journal/vaop/ncurrent/abs/ejhg2008267a.html
Pressemitteilung der Columbia Universität http://www.cumc.columbia.edu/news/press_releases/090128_RolandicEpilepsy.html
DÄ-Artikel Epilepsie im Kindes- und Jugendalter http://www.aerzteblatt.de/v4/archiv/artikel.asp?src=suche&id=59870
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