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

Mary C MajChristie L TaylorKevin LandauHelga V TorielloDong Li Elizabeth Joyce Bhoj Hakon H HakonarsonBeverly NelsonSarah GluschitzRuth H WalkerAndrew K Sobering

Published in: Molecular genetics & genomic medicine (2022)

We report a novel pathogenic variant in SYNJ1 present in homozygosity leading to developmental and epileptic encephalopathy. Currently, there are only 4 reports describing 10 individuals with SYNJ1-related developmental and epileptic encephalopathy. This case expands the clinical knowledge and the allelic heterogeneity associated with SYNJ1 variants.

Keyphrases

early onset
healthcare
copy number
single cell
emergency department
gene expression
dna methylation
adverse drug
electronic health record