A novel SYNJ1 homozygous variant causing developmental and epileptic encephalopathy in an Afro‐Caribbean individual

BACKGROUND: SYNJ1 encodes Synaptojanin‐1, a dual‐function poly‐phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early onset parkinsonism to developmental and epilepti...

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Detalles Bibliográficos
Autores principales: Maj, Mary, Taylor, Christie L., Landau, Kevin, Toriello, Helga V., Li, Dong, Bhoj, Elizabeth J., Hakonarson, Hakon, Nelson, Beverly, Gluschitz, Sarah, Walker, Ruth H., Sobering, Andrew K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9834178/
https://www.ncbi.nlm.nih.gov/pubmed/36148638
http://dx.doi.org/10.1002/mgg3.2064

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