Annick Cherwon-Klabunde
Heidelberg, BW, Germany
Last Updated: 09/26/2026
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Found 8 publications
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: June 23, 2025
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Journal: Annals of neurology
Published: March 16, 2025
Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.
Journal: American journal of human genetics
Published: November 09, 2023
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 12, 2023
Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy.
Journal: Neurology. Genetics
Published: April 22, 2022
Clinical spectrum and treatment outcome of 95 children with continuous spikes and waves during sleep (CSWS).
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: June 06, 2020
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Last Updated: 09/26/2026