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SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure
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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823681/ https://www.ncbi.nlm.nih.gov/pubmed/29179256 http://dx.doi.org/10.1002/mgg3.341 |