Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Por Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad
Publicado em 2001

Neutralization of a negative charge in the S1–S2 region of the K(V)7.2 (KCNQ2) channel affects voltage-dependent activation in neonatal epilepsy

Por Wuttke, Thomas V, Penzien, Johann, Fauler, Michael, Seebohm, Guiscard, Lehmann-Horn, Frank, Lerche, Holger, Jurkat-Rott, Karin
Publicado em 2008