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  1. 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

  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

  3. Markus, Fenja [Author]; Angelini, Chloé [Author]; Trimouille, Aurelien [Author]; Rudolf, Gabrielle [Author]; Lesca, Gaetan [Author]; Goizet, Cyril [Author]; Lasseaux, Eulalie [Author]; Arveiler, Benoit [Author]; Slegtenhorst, Marjon van [Author]; Brooks, Alice S. [Author]; Abou Jamra, Rami [Author]; Korenke, Christoph [Author]; Neidhardt, John [Author]; Owczarek-Lipska, Marta [Author]

    Rare variants in the GABA A receptor subunit & identified in patients with a wide spectrum of epileptic phenotypes

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    2020

    Published in: Molecular genetics & genomic medicine ; 8(2020), 9, Artikel-ID e1388, Seite 1-13

  4. 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)

  5. 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, Maria-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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    Basel: MDPI, 2021

    Published in: International journal of molecular sciences ; 22, 6 (2021), 2824

  6. Alber, Michael [Author]; Kalscheuer, Vera M. [Author]; Marco, Elysa [Author]; Sherr, Elliot [Author]; Lesca, Gaetan [Author]; Till, Marianne [Author]; Gradek, Gyri [Author]; Wiesener, Antje [Author]; Korenke, Christoph [Author]; Mercier, Sandra [Author]; Becker, Felicitas [Author]; Yamamoto, Toshiyuki [Author]; Scherer, Stephen W. [Author]; Marshall, Christian R. [Author]; Walker, Susan [Author]; Dutta, Usha R. [Author]; Dalal, Ashwin B. [Author]; Suckow, Vanessa [Author]; Jamali, Payman [Author]; Kahrizi, Kimia [Author]; Najmabadi, Hossein [Author]; Minassian, Berge A. [Author]

    ARHGEF9 disease : phenotype clarification and genotype-phenotype correlation

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    2017

    Published in: Neurology. Genetics ; Bd. 3, 2017, 3, Art.-Nr. e148, insges. 10 S.

  7. 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

  8. Baldassari, Sara [Author]; Picard, Fabienne [Author]; Verbeek, Nienke E. [Author]; Kempen, Marjan van [Author]; Brilstra, Eva H. [Author]; Lesca, Gaetan [Author]; Conti, Valerio [Author]; Guerrini, Renzo [Author]; Bisulli, Francesca [Author]; Licchetta, Laura [Author]; Pippucci, Tommaso [Author]; Tinuper, Paolo [Author]; Hirsch, Edouard [Author]; Saint Martin, Anne de [Author]; Chelly, Jamel [Author]; Rudolf, Gabrielle [Author]; Chipaux, Mathilde [Author]; Ferrand-Sorbets, Sarah [Author]; Dorfmüller, Georg [Author]; Sisodiya, Sanjay [Author]; Balestrini, Simona [Author]; Schoeler, Natasha [Author]; Hernandez-Hernandez, Laura [Author]; Krithika, Sundararaman [Author]; [...]

    The landscape of epilepsy-related GATOR1 variants

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    2019

    Published in: Genetics in medicine ; 21(2019), 2, Seite 398-408

  11. Schneider, Vincent; Dupont, Gwendoline; Madinier, Guillaume; Ramond, Francis; Lesca, Gaetan; Thauvin-Robinet, Christel; Thomas, Quentin

    Compound Heterozygous WARS2 Variants Including a Hypomorphic Allele Cause a Milder Phenotype of Complex Dopa Responsive Dystonia: Case Report and Review of the Literature

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    Springer Science and Business Media LLC, 2024

    Published in: The Cerebellum (2024)

  12. Leclert, Victoire; Laurencin, Chloe; Ameli, Roxana; Hermier, Marc; Flaus, Anthime; Prange, Stephane; Lesca, Gaetan; Thobois, Stephane

    Globus Pallidus Lesion With Iron Deposition and Dopaminergic Denervation in a Patient With a Pathogenic SLC6A1 Variant : A Case Report : A Case Report

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    Ovid Technologies (Wolters Kluwer Health), 2024

    Published in: Neurology Genetics, 10 (2024) 2

  18. Demily, Caroline; Lesca, Gaétan; Poisson, Alice; Till, Marianne; Barcia, Giulia; Chatron, Nicolas; Sanlaville, Damien; Munnich, Arnold

    Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?

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    Springer Science and Business Media LLC, 2018

    Published in: Journal of Autism and Developmental Disorders, 48 (2018) 8, Seite 2886-2889

  19. Panagiotakaki, Eleni; De Bellescize, Julitta; Catenoix, Hélène; Lesca, Gaetan; Thevenon, Julien; Arzimanoglou, Alexis

    SEEG in ... Family

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    Georg Thieme Verlag KG, 2018

    Published in: Neuropediatrics, 49 (2018) S 01, Seite S1-S12