Kleinwachau - Sächsisches Epilepsiezentrum Radeberg gGmbH

Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical Dysplasia (2026) Kulosik L, Schanze I, Zacher P, Al-Awam BS, Srinivasan VM, Gowda VK, Krey I, et al. Journal article Correction: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (European Journal of Human Genetics, (2025), 33, 8, (989-996), 10.1038/s41431-025-01884-z) (2026) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsma EK, et al. Journal article, Erratum Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, non-interventional study protocol (2025) Kalousios S, Hesser J, Dümpelmann M, Baumgartner C, Hamer H, Hirsch M, Imbach L, et al. Journal article Efficacy and tolerability of fenfluramine with concomitant potassium bromide in patients with Dravet syndrome (2025) Pringsheim M, Kluger G, Strzelczyk A, Schubert-Bast S, Mayer T, Glauche B, Muhle H, et al. Journal article Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization (2025) Engel C, Rendek M, Assoumani J, Argilli E, Ariani F, Avice-Denizet AL, Bijlsmaa EK, et al. Journal article MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway (2024) Gong M, Li J, Qin Z, Machado Bressan Wilke MV, Liu Y, Li Q, Liu H, et al. Journal article MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature (2024) Karayol R, Borroto MC, Haghshenas S, Namasivayam A, Reilly J, Levy MA, Relator R, et al. Journal article Developmental epileptic encephalopathy in DLG4-related synaptopathy. (2024) Kassabian B, Levy AM, Gardella E, Aledo-Serrano A, Ananth AL, Brea-Fernández AJ, Caumes R, et al. Journal article ARID1B-related disorder in 87 adults: Natural history and self-sustainability (2024) van der Sluijs PJ, Gösgens M, Dingemans AJ, Striano P, Riva A, Mignot C, Faudet A, et al. Journal article First epileptic seizure and epilepsies in adulthood: Abridged version of the S2k guideline of the German Society for Neurology in cooperation with the German Society for Epileptology. English Version (2024) Holtkamp M, May TW, Berkenfeld R, Bien CG, Coban I, Knake S, Michaelis R, et al. Journal article