Article
Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies.
Nature genetics - 1 Apr 2003
Haug Karsten, Warnstedt Maike, Alekov Alexi K, Sander Thomas, Ramírez Alfredo, Poser Barbara, Maljevic Snezana, Hebeisen Simon, Kubisch Christian, Rebstock Johannes, Horvath Steve, Hallmann Kerstin, Dullinger Joern S, Rau Birgit, Haverkamp Fritz, Beyenburg Stefan, Schulz Herbert, Janz Dieter, Giese Bernd, Müller-Newen Gerhard, Propping Peter, Elger Christian E, Fahlke Christoph, Lerche Holger, Heils Armin
Abstract excerpt
Idiopathic generalized epilepsy (IGE) is an inherited neurological disorder affecting about 0.4% of the world's population. Mutations in ten genes causing distinct forms of idiopathic epilepsy have been identified so far, but the genetic basis of many IGE subtypes is still unknown. Here we report a gene associated with the four most common IGE subtypes: childhood and juvenile absence epilepsy (CAE and JAE),...
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