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PRICKLE1 progressive myoclonus epilepsy in Southern Italy

✍ Scribed by C. Criscuolo; M.F. de Leva; P. Sorrentino; R. Piro; R. Carbone; A. Guacci; G. De Michele; A. Filla


Book ID
102505345
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
175 KB
Volume
25
Category
Article
ISSN
0885-3185

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Urinary GAGs analysis in Progressive Myoclonus Epilepsy (PME) showed an accumulation of uronic acid in the fraction eluted by 1 M NaCl and 3 M NaCl. As analogous changes were found in other myoclonic and epileptic patients receiving large doses of anticonvulsant drugs, these alterations in the GAG u

Lafora progressive myoclonus epilepsy:NH
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Lafora disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest myoclonus and tonic–clonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence. The two genes known to be involved in Lafora disease ar