Article
Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.
Annals of neurology - 1 Mar 2014
Orhan Gökce, Bock Merle, Schepers Dorien, Ilina Elena I, Reichel Stephanie Nadine, Löffler Heidi, Jezutkovic Nicole, Weckhuysen Sarah, Mandelstam Simone, Suls Arvid, Danker Timm, Guenther Elke, Scheffer Ingrid E, De Jonghe Peter, Lerche Holger, Maljevic Snezana
Abstract excerpt
OBJECTIVE: Mutations in KCNQ2 and KCNQ3, encoding the voltage-gated potassium channels KV 7.2 and KV 7.3, are known to cause benign familial neonatal seizures mainly by haploinsufficiency. Here, we set out to determine the disease mechanism of 7 de novo missense KCNQ2 mutations that were recently described in patients with a severe epileptic encephalopathy including pharmacoresistant seizures and pronounced...
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