Advances in Lafora progressive myoclonus epilepsy
β Scribed by Antonio V. Delgado-Escueta
- Book ID
- 107543581
- Publisher
- Springer
- Year
- 2007
- Tongue
- English
- Weight
- 155 KB
- Volume
- 7
- Category
- Article
- ISSN
- 1528-4042
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π SIMILAR VOLUMES
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
The syndrome of myoclonus, epilepsy, and mental deficiency is observed in a number of distinct nosologic entities differing with respect to clinical course, (--) pathologic, and biochemical findings. Genetically, the heterogeneity within this group of disorders is shown by the occurrence of autosoma
Communicated by Alastair F. Brown Progressive Myoclonus Epilepsy (PME) of the Lafora type is an autosomal recessive disease, which presents in teenage years with myoclonia and generalized seizures leading to death within a decade of onset. It is characterized by pathognomonic inclusions, Lafora bodi