دورية أكاديمية
Lafora Disease: A Case Report
| العنوان: | Lafora Disease: A Case Report |
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| المؤلفون: | Ebru APAYDIN DOĞAN, Faik İLİK, Zeliha Esin ÇELİK, Bülent Oğuz GENÇ, Muhammed Nebil SELİMOĞLU |
| المصدر: | Archives of Epilepsy, Vol 22, Iss 1, Pp 32-36 (2016) |
| بيانات النشر: | Galenos Yayinevi, 2016. |
| سنة النشر: | 2016 |
| المجموعة: | LCC:Neurology. Diseases of the nervous system LCC:Medicine |
| مصطلحات موضوعية: | lafora disease, perampanel, progressive myoclonic epilepsy, Neurology. Diseases of the nervous system, RC346-429, Medicine |
| الوصف: | Lafora disease (LD) is a progressive myoclonus epilepsy with autosomal recessive inheritance. Clinical course is progressive and includes myoclonic, cerebellar, and extrapyramidal signs, generalized tonic-clonic seizures, and cognitive decline. Valproic acid, zonisamide, levetiracetam, clonazepam, and piracetam are among the treatment options. Carbamazepine (CBZ), oxcarbazepine, phenytoin, and lamotrigine (LM) should be avoided to prevent worsening of symptoms. Though evidence is limited, perampanel is the only drug to achieve sustained improvement in frequency of seizures, and effective control of neurological and cognitive decline in patients with LD. Described in the present report is a case of typical LD with clinical worsening on CBZ and LM treatment. Electroencephalographic and pathologic findings are reported. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2792-0550 |
| العلاقة: | http://archepilepsy.org/archives/archive-detail/article-preview/lafora-disease-a-case-report/55060Test; https://doaj.org/toc/2792-0550Test |
| DOI: | 10.5505/epilepsi.2016.74755 |
| الوصول الحر: | https://doaj.org/article/a2584c7f535943b3910a898d38899005Test |
| رقم الانضمام: | edsdoj.2584c7f535943b3910a898d38899005 |
| قاعدة البيانات: | Directory of Open Access Journals |
| تدمد: | 27920550 |
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| DOI: | 10.5505/epilepsi.2016.74755 |