PRICKLE1 progressive myoclonus epilepsy in Southern Italy
β 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 disease is a fatal autosomal recessive form of progressive myoclonus epilepsy. Patients manifest myoclonus and tonicβclonic seizures, visual hallucinations, intellectual, and progressive neurologic deterioration beginning in adolescence. The two genes known to be involved in Lafora disease ar