Article
Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.
Human mutation - 1 Oct 2011
Maljevic Snezana, Naros Georgios, Yalçin Özlem, Blazevic Dragica, Loeffler Heidi, Cağlayan Hande, Steinlein Ortrud K, Lerche Holger
Abstract excerpt
Benign familial neonatal seizures (BFNS) are a dominant epilepsy syndrome caused by mutations in the voltage-gated potassium channels K(V) 7.2 and K(V) 7.3. We examined the molecular pathomechanism of a BFNS-causing mutation (p.N258S) in the extracellular S5-H5 loop of K(V) 7.2. Wild type (WT) and mutant channels, expressed in both Xenopus laevis oocytes and CHO cells, were studied using electrophysiological...
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