Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features

Nils Rademacher; Melanie Hambrock; Ute Fischer; Bettina Moser; Berten Ceulemans; Wolfgang Lieb; Rainer Boor; Irina Stefanova; Gabriele Gillessen-Kaesbach; Charlotte Runge; Georg Christoph Korenke; Stefanie Spranger; Franco Laccone; Andreas Tzschach; Vera M. Kalscheuer

doi:10.1007/s10048-011-0277-6

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features

Nils Rademacher, Melanie Hambrock, Ute Fischer, Bettina Moser, Berten Ceulemans, Wolfgang Lieb, Rainer Boor, Irina Stefanova, Gabriele Gillessen-Kaesbach, Charlotte Runge, Georg Christoph Korenke, Stefanie Spranger, Franco Laccone, Andreas Tzschach, Vera M. Kalscheuer^*

^*Corresponding author for this work

30 Citations (Scopus)

Original language	English
Journal	Neurogenetics
Volume	12
Issue number	2
Pages (from-to)	165-167
Number of pages	3
ISSN	1364-6745
DOIs	https://doi.org/10.1007/s10048-011-0277-6
Publication status	Published - 01.05.2011

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Rademacher, N., Hambrock, M., Fischer, U., Moser, B., Ceulemans, B., Lieb, W., Boor, R., Stefanova, I., Gillessen-Kaesbach, G., Runge, C., Korenke, G. C., Spranger, S., Laccone, F., Tzschach, A., & Kalscheuer, V. M. (2011). Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features. Neurogenetics, 12(2), 165-167. https://doi.org/10.1007/s10048-011-0277-6

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title = "Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features",

author = "Nils Rademacher and Melanie Hambrock and Ute Fischer and Bettina Moser and Berten Ceulemans and Wolfgang Lieb and Rainer Boor and Irina Stefanova and Gabriele Gillessen-Kaesbach and Charlotte Runge and Korenke, \{Georg Christoph\} and Stefanie Spranger and Franco Laccone and Andreas Tzschach and Kalscheuer, \{Vera M.\}",

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doi = "10.1007/s10048-011-0277-6",

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Rademacher, N, Hambrock, M, Fischer, U, Moser, B, Ceulemans, B, Lieb, W, Boor, R, Stefanova, I, Gillessen-Kaesbach, G, Runge, C, Korenke, GC, Spranger, S, Laccone, F, Tzschach, A & Kalscheuer, VM 2011, 'Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features', Neurogenetics, vol. 12, no. 2, pp. 165-167. https://doi.org/10.1007/s10048-011-0277-6

TY - JOUR

T1 - Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features

AU - Rademacher, Nils

AU - Hambrock, Melanie

AU - Fischer, Ute

AU - Moser, Bettina

AU - Ceulemans, Berten

AU - Lieb, Wolfgang

AU - Boor, Rainer

AU - Stefanova, Irina

AU - Gillessen-Kaesbach, Gabriele

AU - Runge, Charlotte

AU - Korenke, Georg Christoph

AU - Spranger, Stefanie

AU - Laccone, Franco

AU - Tzschach, Andreas

AU - Kalscheuer, Vera M.

PY - 2011/5/1

Y1 - 2011/5/1

UR - https://www.scopus.com/pages/publications/79959986409

U2 - 10.1007/s10048-011-0277-6

DO - 10.1007/s10048-011-0277-6

M3 - Letters

C2 - 21318334

AN - SCOPUS:79959986409

SN - 1364-6745

VL - 12

SP - 165

EP - 167

JO - Neurogenetics

JF - Neurogenetics

IS - 2

ER -

Identification of a novel CDKL5 exon and pathogenic mutations in patients with severe mental retardation, early-onset seizures and rett-like features

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