@article{44401e8579a74afeb21a4788cce6e063,
title = "Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1",
abstract = "To present the clinical features and the results of laboratory investigations in three patients with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a rare condition caused by mutations in the N-acylsphingosine amidohydrosilase 1 (ASAH1) gene.",
keywords = "ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy, ASAH1 mutations, Myoclonus, Polygraphy, Progressive myoclonus epilepsy, Spinal muscular atrophy",
author = "Guido Rubboli and Pierangelo Veggiotti and Antonella Pini and Angela Berardinelli and Gaetano Cantalupo and Enrico Bertini and Tiziano, {Francesco Danilo} and Adele D'Amico and Elena Piazza and Emanuela Abiusi and Stefania Fiori and Elena Pasini and Francesca Darra and Giuseppe Gobbi and Roberto Michelucci",
year = "2015",
doi = "10.1111/epi.12977",
language = "English",
pages = "1--7",
journal = "Epilepsia",
issn = "0013-9580",
publisher = "Wiley-Blackwell Publishing Ltd",
}