De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity von Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M., Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein, Wang, Qing Kenneth

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The constitutional gain‐of‐function variant p. Glu1099Lys in NSD2 is associated with a novel syndrome von Popp, Bernt, Brugger, Melanie, Poschmann, Sibylle, Bartolomaeus, Tobias, Radtke, Maximilian, Hentschel, Julia, Di Donato, Nataliya, Rump, Andreas, Gburek‐Augustat, Janina, Graf, Elisabeth, Wagner, Matias, Sorge, Ina, Lemke, Johannes R, Meitinger, Thomas, Abou Jamra, Rami, Strehlow, Vincent, Brunet, Theresa

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The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome von Popp, Bernt, Brugger, Melanie, Poschmann, Sibylle, Bartolomaeus, Tobias, Radtke, Maximilian, Hentschel, Julia, Di Donato, Nataliya, Rump, Andreas, Gburek‐Augustat, Janina, Graf, Elisabeth, Wagner, Matias, Sorge, Ina, Lemke, Johannes R, Meitinger, Thomas, Abou Jamra, Rami, Strehlow, Vincent, Brunet, Theresa

Volltext

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca 2+ sensitivity von Li, Xia, Poschmann, Sibylle, Chen, Qiuyun, Fazeli, Walid, Oundjian, Nelly Jouayed, Snoeijen-Schouwenaars, Francesca M, Fricke, Oliver, Kamsteeg, Erik-Jan, Willemsen, Marjolein, Wang, Qing Kenneth

Volltext