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  1. Döring, Jan H. [Author]; Schröter, Julian [Author]; Jüngling, Jerome [Author]; Biskup, Saskia [Author]; Klotz, Kerstin A. [Author]; Bast, Thomas [Author]; Dietel, Tobias [Author]; Korenke, G. Christoph [Author]; Christoph, Sophie [Author]; Brennenstuhl, Heiko [Author]; Rubboli, Guido [Author]; Moller, Rikke S. [Author]; Lesca, Gaetan [Author]; Chaix, Yves [Author]; Kölker, Stefan [Author]; Hoffmann, Georg F. [Author]; Lemke, Johannes R. [Author]; Syrbe, Steffen [Author]

    Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

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    Basel: MDPI, [2024]

    Published in: International Journal of Molecular Sciences ; 22, (2021)

  2. 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]

    Refining genotypes and phenotypes in KCNA2-related neurological disorders

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    10 March 2021

    Published in: International journal of molecular sciences ; 22(2021), 6, Artikel-ID 2824, Seite 1-16

  6. Strehlow, Vincent [Author]; Rieubland, Claudine [Author]; Gallati, Sabina [Author]; Kim, Sukhan [Author]; Myers, Scott J. [Author]; Peterson, Vincent [Author]; Ramsey, Amy J. [Author]; Teuscher, Daniel D. [Author]; Traynelis, Stephen F. [Author]; Lemke, Johannes R. [Author]

    Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy

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    Hoboken: Wiley, [2024]

    Published in: Epilepsia ; 63 (2022), Seite e132-e137

  8. Chatron, Nicolas [Author]; Becker, Felicitas [Author]; Morsy, Heba [Author]; Schmidts, Miriam [Author]; May, Patrick [Author]; Lesca, Gaetan [Author]; Weckhuysen, Sarah [Author]; Tajsharghi, Homa [Author]

    Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

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    Oxford: Oxford University Press, 2020

    Published in: Brain ; 143, 5 (2020), 1447-1461

  9. Johannesen, Katrine M. [Author]; Mitter, Diana [Author]; Janowski, Robert [Author]; Roth, Christian [Author]; Toulouse, Joseph [Author]; Poulat, Anne-Lise [Author]; Ville, Dorothee M. [Author]; Chatron, Nicolas [Author]; Brilstra, Eva [Author]; Geleijns, Karin [Author]; Born, Alfred Peter [Author]; McLean, Scott [Author]; Nugent, Kimberly [Author]; Baynam, Gareth [Author]; Poulton, Cathryn [Author]; Dreyer, Lauren [Author]; Gration, Dylan [Author]; Schulz, Solveig [Author]; Dieckmann, Andrea [Author]; Helbig, Katherine L. [Author]; Merkenschlager, Andreas [Author]; Abou Jamra, Rami [Author]; Finck, Anja [Author]; Gardella, Elena [Author]; [...]

    Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

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    2019

    Published in: Neurology / Genetics ; Bd. 5.2019, 6, Art.-Nr. e373, insgesamt 10 Seiten

  10. Uysal, Betuel [Author] ; Lerche, Holger [Degree supervisor]

    Generation of a Human Disease Model for KCNA2-related Developmental and Epileptic Encephalopathy using iPSC-derived Neurons

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    Tübingen: Universitätsbibliothek Tübingen, 2023

  12. Specchio, Nicola; Trivisano, Marina; Scott, Rod C.; Ferrie, Colin

    Epileptic Encephalopathy

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    Hindawi Limited, 2012

    Published in: Epilepsy Research and Treatment