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Article

Loss of SYNJ1 dual phosphatase activity leads to early onset refractory seizures and progressive neurological decline.

Brain : a journal of neurology - 1 Sept 2016

Hardies Katia, Cai Yiying, Jardel Claude, Jansen Anna C, Cao Mian, May Patrick, Djémié Tania, Hachon Le Camus Caroline, Keymolen Kathelijn, Deconinck Tine, Bhambhani Vikas, Long Catherine, Sajan Samin A, Helbig Katherine L, Suls Arvid, Balling Rudi, Helbig Ingo, De Jonghe Peter, Depienne Christel, De Camilli Pietro, Weckhuysen Sarah

Abstract excerpt

SYNJ1 encodes a polyphosphoinositide phosphatase, synaptojanin 1, which contains two consecutive phosphatase domains and plays a prominent role in synaptic vesicle dynamics. Autosomal recessive inherited variants in SYNJ1 have previously been associated with two different neurological diseases: a recurrent homozygous missense variant (p.Arg258Gln) that abolishes Sac1 phosphatase activity was identified in three...

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Source

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Identifiers

PMID: 27435091
DOI: 10.1093/brain/aww180
PMCID: PMC4995362

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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