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- W2025889263 abstract "To describe the electroencephalographic findings in mucolipidosis type IV (ML IV), a lysosomal storage disease of unknown etiology characterized clinically by corneal clouding, retinal degeneration and severe psychomotor retardation. Most patients are of Ashkenazi-Jewish ancestry. The EEG findings in this syndrome have not been characterized.We analyzed the EEGs of 10 patients with the diagnosis of ML IV, aged between of 2.5 and 21 years. All patients had 21 channel recordings in the international 10/20 system without sedation.Six of the 10 patients had slowing of the background in the theta frequency range, and 4 had excessive beta frequency activity without the administration of medications. Two patients were able to reach stage 2 sleep, and were noted to have both synchronous and asynchronous spindles and vertex waves. Of the 10 patients, 6 had epileptiform spikes, all of which were noted frequently. The location of the spikes varied, from the frontal and temporal regions to the central regions, although location was consistent in each patient. Only one patient with epileptiform spikes had a history of clinical seizures. None of the other patients had a history of seizures.These findings imply that epileptiform discharges are common in patients with ML IV, but are infrequently associated with clinical seizures." @default.
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- W2025889263 date "1998-05-01" @default.
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- W2025889263 title "Electroencephalographic findings in patients with mucolipidosis type IV" @default.
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- W2025889263 doi "https://doi.org/10.1016/s0013-4694(98)00013-3" @default.
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