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Article

ASAH1 Variants Causing Spinal Muscular Atrophy Phenotype.

Indian journal of pediatrics - 1 Dec 2024

Wander Arvinder, Meena Ankit Kumar, Ghangoriya Pawan Kumar, Chakrabarty Biswaroop, Jauhari Prashant, Gulati Sheffali

Abstract excerpt

Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a rare autosomal recessive disorder due to mutations in the ASAH1 gene. SMA-PME is characterized by progressive muscle weakness from three to seven years of age, drug refractory epilepsy, and variable degree of cognitive decline. Nearly 50 cases have been reported worldwide so far. Here the authors present a case of 9-y-old boy affected by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Myoclonic Epilepsies, Progressive

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Source

Identifiers

PMID: 38079070
DOI: 10.1007/s12098-023-04957-3

Genes

ASAH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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