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Article

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

Molecular genetics & genomic medicine - 1 Jan 2018

Al Zaabi Nuha, Al Menhali Noora, Al-Jasmi Fatma

Abstract excerpt

BACKGROUND: Synaptojanin 1 is encoded by the SYNJ1(MIM 604297) and plays a major role in phosphorylation and recycling of synaptic vesicles. Mutation of SYNJ1 is associated with two distinct phenotypes; a known homozygous missense mutation (p.Arg258Gln) associated with early-onset Parkinson disease (MIM 615530), whereas mutation with complete loss of SYNJ1 function result in a lethal neurodegenerative disease...

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Identifiers

PMID: 29179256
DOI: 10.1002/mgg3.341
PMCID: PMC5823681

Genes

SYNJ1

Variants

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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