Electronic Resource
Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
| العنوان: | Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome. |
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| المؤلفون: | Buijsse, N., Jansen, Femke, Ockeloen, C.W., Kempen, M.J.P. van, Zeidler, S., Willemsen, M.H., Scarano, E., Monticone, S., Zonneveld-Huijssoon, E., Low, K.J., Bayat, A., Sisodiya, S.M., Samanta, D., Lesca, G., Jong, D. de, Giltay, J.C., Verbeek, N.E., Kleefstra, T., Brilstra, E.H., Vlaskamp, D.R.M. |
| المصدر: | Epilepsia Open, 8, 4, pp. 1300-1313 |
| بيانات النشر: | 2023 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Contains fulltext : 300069.pdf (Publisher’s version ) (Open Access) OBJECTIVE: The aim of this study was to describe the epilepsy phenotype in a large international cohort of patients with KBG syndrome and to study a possible genotype-phenotype correlation. METHODS: We collected data on patients with ANKRD11 variants by contacting University Medical Centers in the Netherlands, an international network of collaborating clinicians, and study groups who previously published about KBG syndrome. All patients with a likely pathogenic or pathogenic ANKRD11 variant were included in our patient cohort and categorized into an "epilepsy group" or "non-epilepsy group". Additionally, we included previously reported patients with (likely) pathogenic ANKRD11 variants and epilepsy from the literature. RESULTS: We included 75 patients with KBG syndrome of whom 26 had epilepsy. Those with epilepsy more often had moderate to severe intellectual disability (42.3% vs 9.1%, RR 4.6 [95% CI 1.7-13.1]). Seizure onset in patients with KBG syndrome occurred at a median age of 4 years (range 12 months - 20 years), and the majority had generalized onset seizures (57.7%) with tonic-clonic seizures being most common (23.1%). The epilepsy type was mostly classified as generalized (42.9%) or combined generalized and focal (42.9%), not fulfilling the criteria of an electroclinical syndrome diagnosis. Half of the epilepsy patients (50.0%) were seizure free on anti-seizure medication (ASM) for at least 1 year at the time of last assessment, but 26.9% of patients had drug-resistant epilepsy (failure of ≥2 ASM). No genotype-phenotype correlation could be identified for the presence of epilepsy or epilepsy characteristics. SIGNIFICANCE: Epilepsy in KBG syndrome most often presents as a generalized or combined focal and generalized type. No distinctive epilepsy syndrome could be identified. Patients with KBG syndrome and epilepsy had a significantly poorer neurodevelopmental outcome compared with those without epilepsy. Clinicians should consider KBG syndrome as a causal 01 december 2023 |
| مصطلحات الفهرس: | All institutes and research themes of the Radboud University Medical Center, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience, Article / Letter to editor |
| URL: | |
| الاتاحة: | Open access content. Open access content |
| Other Numbers: | NLQGE oai:repository.ubn.ru.nl:2066/300069 10.1002/epi4.12799 1414568410 |
| المصدر المساهم: | RADBOUD UNIVERSITEIT NAJMEGEN From OAIster®, provided by the OCLC Cooperative. |
| رقم الانضمام: | edsoai.on1414568410 |
| قاعدة البيانات: | OAIster |
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