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Refining genotypes and phenotypes in KCNA2-related neurological disorders by Driedger, Jan Henje (Author) , Schröter, Julian (Author) , Jüngling, Jerome (Author) , Biskup, Saskia (Author) , Klotz, Kerstin A. (Author) , Bast, Thomas (Author) , Dietel, Tobias (Author) , Korenke, Christoph (Author) , Christoph, Sophie (Author) , Brennenstuhl, Heiko (Author) , Rubboli, Guido (Author) , Møller, Rikke S. (Author) , Lesca, Gaetan (Author) , Chaix, Yves (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Lemke, Johannes (Author) , Syrbe, Steffen (Author) ,

• Verlag, kostenfrei, Volltext
• Verlag, kostenfrei, Volltext

Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy by O'Donnell-Luria, Anne H. (Author) , Syrbe, Steffen (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext