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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Ganesh S, Delgado-Escueta AV, Suzuki T, Francheschetti S, Riggio C, Avanzini G, Rabinowicz A, Bohlega S, Bailey J, Alonso ME, Rasmussen A, Thomson AE, Ochoa A, Prado AJ, Medina MT, Yamakawa K. Ganesh S, et al. Among authors: francheschetti s. Hum Mol Genet. 2002 May 15;11(11):1263-71. doi: 10.1093/hmg/11.11.1263. Hum Mol Genet. 2002. PMID: 12019207