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

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

Abstract 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...

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Bibliographic Details
Main Authors: Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering
Format: Article
Language:English
Published: Wiley 2023-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
developmental and epileptic encephalopathy
synaptojanin 1
SYNJ1
Online Access:https://doi.org/10.1002/mgg3.2064

Internet

https://doi.org/10.1002/mgg3.2064

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