Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora.

Gómez-Garre, P

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora. [electronic resource] - Neurology Apr 2007 - 1369-73 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000260061.37559.67 doi


1,4-alpha-Glucan Branching Enzyme--genetics
Biopsy
Brain--pathology
Carrier Proteins--genetics
Child
Codon, Nonsense
Diagnosis, Differential
Disease Progression
Dwarfism--etiology
Electroencephalography
Exons--genetics
Glycogen Storage Disease Type IV--diagnosis
Humans
Infant
Lafora Disease--complications
Liver--pathology
Liver Cirrhosis--etiology
Liver Failure--etiology
Liver Transplantation
Magnetic Resonance Imaging
Male
Microsatellite Repeats
Mutation, Missense
Pedigree
Periodic Acid-Schiff Reaction
Phenotype
Point Mutation
Polymorphism, Single-Stranded Conformational
Protein Tyrosine Phosphatases--genetics
Protein Tyrosine Phosphatases, Non-Receptor
Skin--pathology
Spain
Ubiquitin-Protein Ligases