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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Vydáno v:Brain
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Oxford University Press 2016
Témata:
Original Articles
On-line přístup: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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