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

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 re...

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Bibliografski detalji
Izdano u:Brain
Glavni autori: 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
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2016
Teme:
Original Articles
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4995362/
https://ncbi.nlm.nih.gov/pubmed/27435091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/aww180
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