Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Authors:	Sarah Weckhuysen Philip Holmgren Rik Hendrickx Anna C. Jansen Daniele Hasaerts Charlotte Dielman Julitta de Bellescize Nadia Boutry‐Kryza Gaetan Lesca Sarah Von Spiczak Ingo Helbig Deepak Gill Simone Yendle Rikke S. Møller Laura Klitten Christian Korff Catherine Godfraind Kenou Van Rijckevorsel Peter De Jonghe Helle Hjalgrim Ingrid E. Scheffer Arvid Suls

Affiliation:	1. Neurogenetics Group, Department of Molecular Genetics, VIB, , Antwerp, Belgium;2. Laboratory of Neurogenetics, Institute Born‐Bunge, University of Antwerp, , Antwerp, Belgium;3. Epilepsy Center Kempenhaeghe, , Oosterhout, The Netherlands;4. Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, , Brussels, Belgium;5. Department of Public Health, Vrije Universiteit Brussel, , Brussels, Belgium;6. Epilepsy, Sleep and Pediatric Neurophysiology, University Hospitals of Lyon (HCL), , Lyon, France;7. Department of Medical Genetics, Hospices Civils de Lyon, University Lyon 1, , Lyon, France;8. TIGER Team, INSERM, U1028, CNRS UMR5292, Lyon Neuroscience Research Center, , Lyon, France;9. Department of Neuropediatrics, University of Kiel and University Medical Center Schleswig‐Holstein, , Kiel, Germany;10. TY Nelson Department of Neurology, The Children's Hospital at Westmead, , Sydney, New South Wales, Australia;11. Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, , Melbourne, Australia;12. Danish Epilepsy Center, , Dianalund, Denmark;13. Pediatric Neurology, Child and Adolescent Department, University Hospitals, , Geneva, Switzerland;14. Laboratory of Pathology, University Hospital St‐Luc, Catholic University of Louvain, , Brussels, Belgium;15. Reference Center for Refractory Epilepsy, University Hospital St Luc, Catholic University of Louvain, , Brussels, Belgium;16. Department of Neurology, University Hospital Antwerp, , Antwerp, Belgium;17. Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, , Copenhagen, Denmark;18. Institute for Regional Health Services, University of Southern Denmark, , Odense, Denmark;19. Florey Neurosciences Institutes, , Melbourne, Australia;20. Department of Paediatrics, Royal Children's Hospital, University of Melbourne, , Melbourne, Australia

Abstract:	Mutations in STXBP1 have been identified in a subset of patients with early onset epileptic encephalopathy (EE), but the full phenotypic spectrum remains to be delineated. Therefore, we screened a cohort of 160 patients with an unexplained EE, including patients with early myoclonic encephalopathy (EME), Ohtahara syndrome, West syndrome, nonsyndromic EE with onset in the first year, and Lennox‐Gastaut syndrome (LGS). We found six de novo mutations in six patients presenting as Ohtahara syndrome (2/6, 33%), West syndrome (1/65, 2%), and nonsyndromic early onset EE (3/64, 5%). No mutations were found in LGS or EME. Only two of four mutation carriers with neonatal seizures had Ohtahara syndrome. Epileptic spasms were present in five of six patients. One patient with normal magnetic resonance imaging (MRI) but focal seizures underwent epilepsy surgery and seizure frequency dropped drastically. Neuropathology showed a focal cortical dysplasia type 1a. There is a need for additional neuropathologic studies to explore whether STXBP1 mutations can lead to structural brain abnormalities.

Keywords:	Epileptic encephalopathy Genetics West syndrome Ohtahara syndrome

设为首页 | 免责声明 | 关于勤云 | 加入收藏