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

Epilepsia - 1 May 2015

Rubboli Guido, Veggiotti Pierangelo, Pini Antonella, Berardinelli Angela, Cantalupo Gaetano, Bertini Enrico, Tiziano Francesco Danilo, D'Amico Adele, Piazza Elena, Abiusi Emanuela, Fiori Stefania, Pasini Elena, Darra Francesca, Gobbi Giuseppe, Michelucci Roberto

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 25847462
DOI: 10.1111/epi.12977

Genes

ASAH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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