We describe two females presenting with progressive myoclonic epilepsy (PME), with onset within the first year of life, quickly progressive neurocognitive deterioration and cortical and cerebellar atrophy. EEG showed a peculiar alpha-like pattern. Muscular biopsy revelead alpha-dystroglycan deficit. Dystroglycanopathies should be added to the group of diseases responsible for PMEs.
Epilessia mioclonica progressiva e deficit di alfa-distroglicano: un fenotipo clinico emergente?
DI ROSA, GABRIELLA;TORTORELLA, Gaetano
2008-01-01
Abstract
We describe two females presenting with progressive myoclonic epilepsy (PME), with onset within the first year of life, quickly progressive neurocognitive deterioration and cortical and cerebellar atrophy. EEG showed a peculiar alpha-like pattern. Muscular biopsy revelead alpha-dystroglycan deficit. Dystroglycanopathies should be added to the group of diseases responsible for PMEs.File in questo prodotto:
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