دورية أكاديمية
Current concepts on epilepsy management in tuberous sclerosis complex
| العنوان: | Current concepts on epilepsy management in tuberous sclerosis complex |
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| المؤلفون: | Canevini M. P., Kotulska-Jozwiak K., Curatolo P., La Briola F., Peron A., Slowinska M., Strzelecka J., Vignoli A., Jozwiak S. |
| المساهمون: | M.P. Canevini, K. Kotulska-Jozwiak, P. Curatolo, F. La Briola, A. Peron, M. Slowinska, J. Strzelecka, A. Vignoli, S. Jozwiak |
| بيانات النشر: | Wiley |
| سنة النشر: | 2018 |
| المجموعة: | The University of Milan: Archivio Istituzionale della Ricerca (AIR) |
| مصطلحات موضوعية: | epilepsy, seizure, tuberous sclerosis complex, Anticonvulsant, Cannabidiol, Cognitive Dysfunction, Diet, Ketogenic, Electroencephalography, Human, Infant, TOR Serine-Threonine Kinase, Tuberous Sclerosi, Vagus Nerve Stimulation, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/03 - Genetica Medica |
| الوصف: | Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous disease affecting approximately 1 in 6,000 people, and represents one of the most common genetic causes of epilepsy. Epilepsy affects 90% of the patients and appears in the first 2 years of life in the majority of them. Early onset of epilepsy in the first 12 months of life is associated with high risk of cognitive decline and neuropsychiatric problems including autism. Prenatal or early infantile diagnosis of TSC, before the onset of epilepsy, provides a unique opportunity to monitor EEG before the onset of clinical seizures, thus enabling early intervention in the process of epileptogenesis. In this review, we discuss the current status of knowledge on epileptogenesis in TSC, and present recommendations of American and European experts in the field of epilepsy. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/30255982; info:eu-repo/semantics/altIdentifier/wos/WOS:000448788500005; volume:178; issue:3; firstpage:299; lastpage:308; numberofpages:10; journal:AMERICAN JOURNAL OF MEDICAL GENETICS. PART C, SEMINARS IN MEDICAL GENETICS; http://hdl.handle.net/2434/785016Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053865722 |
| DOI: | 10.1002/ajmg.c.31652 |
| الإتاحة: | https://doi.org/10.1002/ajmg.c.31652Test http://hdl.handle.net/2434/785016Test |
| حقوق: | info:eu-repo/semantics/closedAccess |
| رقم الانضمام: | edsbas.FF61BA43 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1002/ajmg.c.31652 |
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