Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1
Epilepsia2015Vol. 56(5), pp. 692–698
Citations Over TimeTop 10% of 2015 papers
Guido Rubboli, Pierangelo Veggiotti, Antonella Pini, Angela Berardinelli, Gaetano Cantalupo, Enrico Bertini, Francesco Danilo Tiziano, Adele D’Amico, Elena Piazza, Emanuela Abiusi, Stefania Fiori, Elena Pasini, Francesca Darra, Giuseppe Gobbi, Roberto Michelucci
Abstract
Our data indicate that SMA-PME associated with ASAH1 mutations is a genetically distinct condition with specific clinical and neurophysiologic features. Further studies are warranted to explore the role of the ASAH1 gene in muscle and brain function.
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