Epilepsiezentrum Kleinwachau Gemeinnützige

Recent papers from Epilepsiezentrum Kleinwachau Gemeinnützige

1. Retrospective observational study of treatment and referral pathways of patients with epilepsy in GermanySeizure · 2026
2. Truncating Variants in KIF5C Cause a Milder Disorder Distinct From KIF5C-Associated Cortical DysplasiaPediatric Neurology · 2026
3. Knowledge and attitudes toward ketogenic dietary therapy in adults with epilepsyEpilepsy & Behavior · 2026
4. Reliable Detection of Focal Onset Impaired Awareness Seizures in Patients with Epilepsy Using Wearable ECG: Development and Validation StudyComputer Methods and Programs in Biomedicine · 2026
5. De novo variants in KDM2A cause a syndromic neurodevelopmental disorderThe American Journal of Human Genetics · 2025
6. Functional consequence of pathogenic GABRA3 variants determines whether X-linked inheritance is dominant or recessiveJournal of Clinical Investigation · 2025
7. Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment OutcomesNeuropediatrics · 2025
8. Overview and expansion of CEP85L-associated lissencephalyEuropean Journal of Medical Genetics · 2025
9. Use of cannabidiol for off-label treatment of patients with refractory focal, genetic generalised and other epilepsiesNeurological Research and Practice · 2025
10. Retrospective Multicenter Chart Review Study of Adjunctive Cannabidiol for Seizures Associated with Lennox–Gastaut Syndrome, Dravet Syndrome and Tuberous Sclerosis ComplexNeurology and Therapy · 2025
11. Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephalyJournal of Clinical Investigation · 2025
12. The genetic and phenotypic spectrum of GABRB1 -related disordersBrain · 2025
13. De novo variants in KDM2A cause a syndromic neurodevelopmental disorder2025
14. Therapy response prediction of focal cortex stimulation based on clinical parameters: a multicentre, non-interventional study protocolBMJ Open · 2025
15. First epileptic seizure and epilepsies in adulthoodDeleted Journal · 2024
16. A multicenter, matched case–control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in GermanyNeurological Research and Practice · 2024
17. MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignatureThe American Journal of Human Genetics · 2024
18. MARK2variants cause autism spectrum disorderviathe downregulation of WNT/β-catenin signaling pathway2024
19. Critical incidents, nocturnal supervision, and caregiver knowledge on SUDEP in patients with Dravet syndrome: A prospective multicenter study in GermanyEpilepsia · 2023
20. CUX1-related neurodevelopmental disorder: deep insights into phenotype-genotype spectrum and underlying pathologyEuropean Journal of Human Genetics · 2023