Article
Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Human molecular genetics - 15 May 2002
Ganesh Subramaniam, Delgado-Escueta Antonio V, Suzuki Toshimitsu, Francheschetti Silvana, Riggio Concetta, Avanzini Giuiliano, Rabinowicz Adrian, Bohlega Saeed, Bailey Julia, Alonso Maria E, Rasmussen Astrid, Thomson Alfredo E, Ochoa Adriana, Prado Aurelio J, Medina Marco T, Yamakawa Kazuhiro
Abstract excerpt
Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora's disease (LD) classically described as an adolescent-onset stimulus-sensitive myoclonus, epilepsy and neurologic deterioration. Here we related mutations in EPM...
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