Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.

@article{Rubboli2015SpinalMA,
  title={Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations in ASAH1.},
  author={Guido Rubboli and Pierangelo Veggiotti and Antonella Pini and Angela Berardinelli and Gaetano Cantalupo and Enrico Bertini and Francesco Danilo Tiziano and Adele D'amico and Elena Piazza and Emanuela Abiusi and Stefania Fiori and Elena Pasini and F Darra and Giuseppe Gobbi and Roberto Michelucci},
  journal={Epilepsia},
  year={2015},
  volume={56 5},
  pages={692-8}
}
OBJECTIVE 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. METHODS The patients were submitted to clinical evaluation, neurophysiologic investigations (that included wakefulness and sleep electroencephalography [EEG], video-polygraphic recording with jerk-locked back… CONTINUE READING
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