Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: Exon 1 mutations associate with an early-onset cognitive deficit subphenotype

Subramaniam Ganesh, Antonio V. Delgado-Escueta, Toshimitsu Suzuki, Silvana Francheschetti, Concetta Riggio, Giuiliano Avanzini, Adrian Rabinowicz, Saeed Bohlega, Julia Bailey, Maria E. Alonso, Astrid Rasmussen, Alfredo E. Thomson, Adria Na Ochoa, Aurelio J. Prado, Marco T. Medina, Kazuhiro Yamakawa

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Medicine & Life Sciences