Perampanel improved intractable myoclonus in two patients with myoclonus epilepsy

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Progressive familial myoclonus epilepsy.

Seven cases of progressive familial myoclonus epilepsy occurring in three families are presented. The patients were in different stages of the illness. The EEG was abnormal in all. It is suggested that these cases belong clinically to the Lafora bodies group. Nystagmus and optic atrophy, seen in one patient, have not been described previously. Myoclonic jerks did not respond to treatment with d...

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Many attempts have been made to define consistent clinical and pathological entities within the syndrome of progressive myoclonus epilepsy. The existence of a specific metabolic defect underlying one form of the disease is suggested by the presence of characteristic cerebral inclusion bodies (Lafora and Glueck, 1911) and of material with similar staining properties in liver and muscle (Harriman...

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ژورنال

عنوان ژورنال: eNeurologicalSci

سال: 2019

ISSN: 2405-6502

DOI: 10.1016/j.ensci.2019.100215