The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

Author:

Myers Kenneth A.12ORCID,Mandelstam Simone A.345,Ramantani Georgia67ORCID,Rushing Elisabeth J.8,de Vries Bert B.9,Koolen David A.9,Scheffer Ingrid E.13510

Affiliation:

1. Department of Medicine; Epilepsy Research Centre; The University of Melbourne, Austin Health; Heidelberg Victoria Australia

2. Section of Neurology; Department of Pediatrics; Alberta Children's Hospital; Cumming School of Medicine; University of Calgary; Calgary Alberta Canada

3. Department of Paediatrics; The University of Melbourne; Parkville Victoria Australia

4. Department of Radiology; The University of Melbourne; Parkville Victoria Australia

5. The Florey Institute of Neuroscience and Mental Health; Heidelberg Victoria Australia

6. Division of Child Neurology; University Children's Hospital; Zurich Switzerland

7. Swiss Epilepsy Center; Zurich Switzerland

8. Department of Neuropathology; University Hospital; Zurich Switzerland

9. Department of Human Genetics; Donders Institute for Brain, Cognition and Behavior; Radboud University Medical Center; Nijmegen The Netherlands

10. Department of Neurology; Royal Children's Hospital; Parkville Victoria Australia

Funder

National Health and Medical Research Council

NHMRC Practitioner Fellowship

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Cited by 20 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Koolen-de Vries Syndrome: a journey from diagnosis to treatments;Therapeutic Advances in Rare Disease;2024-01

2. Epilepsy;Neurogenetics for the Practitioner;2024

3. The genetic landscape of developmental and epileptic encephalopathy with spike-and-wave activation in sleep;Seizure: European Journal of Epilepsy;2023-08

4. Clinical and radiological assessment of scoliosis in Koolen‐de Vries syndrome;American Journal of Medical Genetics Part A;2023-06-23

5. The clinical phenotype of Koolen‐de Vries syndrome in Turkish patients and literature review;American Journal of Medical Genetics Part A;2023-04-13

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