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- W4309754673 abstract "The progressive myoclonic epilepsies syndrome (PME) is a heterogeneous group of genetic disorders characterized by myoclonus, progressive motor and cognitive abnormalities, sensory and cerebellar symptoms, abnormal slowing of the basic bioelectrical activity at electroencephalography, and normal cognitive functions and normal development of the patient before manifestation of the disease. Generalized spike-wave complexes at electroencephalography have been also described as an obligatory symptom. The Unverricht-Lundborg disease is a distinct entity within the group with specific age at manifestation (7 to 13 years), as well as slow cognitive and motor decline with stabilization in the adult age. In 90% of the cases, the diagnosis is confirmed by identification of the expanded nucleotide duplicates in the CSTB gene. An adequately tailored anticonvulsant treatment can stabilize and improve the patient's condition. The anticonvulsant therapy should not include sodium channel blockers. Valproate sodium is considered to be the main agent; it is usually combined with levetiracetam/zonisamide/topiramate/benzodiazepins. In the recent years, perampanel has been also used as a part of the combination treatment." @default.
- W4309754673 created "2022-11-29" @default.
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- W4309754673 date "2022-12-08" @default.
- W4309754673 modified "2023-10-14" @default.
- W4309754673 title "The Unverricht-Lundborg disease as a part of the progressive myoclonic epilepsies syndrome" @default.
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- W4309754673 doi "https://doi.org/10.18786/2072-0505-2022-50-041" @default.
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