CareLit · DOI-Nachweis · Aktuelle Neurologie
Molecular analysis of a mutation in the S5-H5 linker of the KCNQ2 K+ channel causing neonatal convulsions
DOI 10.1055/s-2006-953339
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Nachweis in CareLit
Autor:innenG. Naros, O. Yalcin, S. Maljevic, T.V. Wuttke, A. Dervent, S. Saltik, O. Cokar, C. Aykut-Bingol, K. Agan, H. Caglayan, O.K. Steinlein, H. Lerche
ZeitschriftAktuelle Neurologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Benign familial neonatal convulsions (BFNC) are caused by mutations within the two delayed rectifier potassium channels KCNQ2 and KCNQ3. We report here the first BFNC missense mutation located in an extracellular loop of KCNQ2. The mutation, identified in a Turkish BFNC family, predicts the single amino acid substitution, N258S, located in the region linking transmembrane segment S5 to the pore loop. Functional stud…
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Zitierempfehlung
G. Naros, O. Yalcin, S. Maljevic, T.V. Wuttke, A. Dervent, S. Saltik, O. Cokar, C. Aykut-Bingol, K. Agan, H. Caglayan, O.K. Steinlein, H. Lerche (2006) Molecular analysis of a mutation in the S5-H5 linker of the KCNQ2 K+ channel causing neonatal convulsions. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2006-953339
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