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

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

Molecular Genetics & Genomic Medicine（2022）

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摘要

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.

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关键词

SYNJ1 ,developmental and epileptic encephalopathy,synaptojanin 1

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