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...

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Detalles Bibliográficos
Autores principales: Al Zaabi, Nuha, Al Menhali, Noora, Al‐Jasmi, Fatma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Clinical Reports
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

Internet

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

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