Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum.

Ali NajafiBehnoosh TasharrofiFarshid ZandsalimiMaryam RasulinezhadMasood Ghahvechi AkbariGholamreza ZamaniMahmoud Reza AshrafiMorteza Heidari

Published in: Italian journal of pediatrics (2023)

This study describes two different ASAH1 mutations and the clinical picture of 3 SMA-PME patients. In addition, previously reported mutations have been reviewed. This study could help to fortify the database of this rare disease with more clinical and genomic data.

Keyphrases

end stage renal disease
emergency department
ejection fraction
multiple sclerosis
newly diagnosed
prognostic factors
dna methylation
machine learning
big data
deep learning
artificial intelligence
genome wide
patient reported outcomes
drug induced
patient reported