Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

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

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.

Affiliation

Orhan G; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Ann Neurol ; 75(3): 382-94, 2014 Mar.

Article in En | MEDLINE | ID: mdl-24318194

Subject(s)

Epilepsy, Benign Neonatal/genetics; Genetic Predisposition to Disease/genetics; KCNQ2 Potassium Channel/genetics; Potassium Channels, Voltage-Gated/genetics; Animals; Carbamates/pharmacology; Epilepsy, Benign Neonatal/physiopathology; Humans; KCNQ2 Potassium Channel/drug effects; KCNQ2 Potassium Channel/physiology; Membrane Potentials/genetics; Mutation, Missense; Oocytes; Phenylenediamines/pharmacology; Potassium Channels, Voltage-Gated/drug effects; Potassium Channels, Voltage-Gated/physiology; Xenopus

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genetic Predisposition to Disease / Epilepsy, Benign Neonatal / Potassium Channels, Voltage-Gated / KCNQ2 Potassium Channel Type of study: Risk_factors_studies Limits: Animals / Humans Language: En Journal: Ann Neurol Year: 2014 Type: Article Affiliation country: Germany

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