We describe a 60 years-old patient presenting with late onset myoclonic seizures, progressive neurological impairment and mental deterioration. Neurophysiological investigations showed marked photosensitivity, a startle reaction, a cortical-subcortical myoclonus. Biochemical study on muscle and skin biopsy was consistent with mitochondrial encephalomyopathy.

Late onset myoclonic epilepsy in a patient with mitochondrial encephalomyopathy: A clinical, polygraphic and biochemical study | [Epilessia mioclonica a esordio tardivo in un caso di encefalopatia mitocondriale: Studio clinico, poligrafico e biochimico] / P., Riguzzi; G., D'Orsi; Meletti, Stefano; R., Rizzi; G., Rubboll; L., Monari; A., Zaniboni; C. A., Tassinari. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 106-107:(1999), pp. 249-250.

Late onset myoclonic epilepsy in a patient with mitochondrial encephalomyopathy: A clinical, polygraphic and biochemical study | [Epilessia mioclonica a esordio tardivo in un caso di encefalopatia mitocondriale: Studio clinico, poligrafico e biochimico]

MELETTI, Stefano;
1999-01-01

Abstract

We describe a 60 years-old patient presenting with late onset myoclonic seizures, progressive neurological impairment and mental deterioration. Neurophysiological investigations showed marked photosensitivity, a startle reaction, a cortical-subcortical myoclonus. Biochemical study on muscle and skin biopsy was consistent with mitochondrial encephalomyopathy.
1999
Late onset myoclonic epilepsy in a patient with mitochondrial encephalomyopathy: A clinical, polygraphic and biochemical study | [Epilessia mioclonica a esordio tardivo in un caso di encefalopatia mitocondriale: Studio clinico, poligrafico e biochimico] / P., Riguzzi; G., D'Orsi; Meletti, Stefano; R., Rizzi; G., Rubboll; L., Monari; A., Zaniboni; C. A., Tassinari. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 106-107:(1999), pp. 249-250.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11381/3058091
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