Publications:

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

Molecular Genetics & Genomic Medicine

Maj, Mary M; Taylor, Christie L CL; Landau, Kevin K; Toriello, Helga V HV; Li, Dong D; Bhoj, Elizabeth J EJ; Hakonarson, Hakon H; Nelson, Beverly B; Gluschitz, Sarah S; Walker, Ruth H RH; Sobering, Andrew K AK

Publication Date: 2022-09-23

Variant appearance in text: SYNJ1: 709C>T; Gln237*

PubMed Link: 36148638

Variant Present in the following documents:

• MGG3-11-e2064-s001.xlsx, sheet 1

View BVdb publication page

SYNJ1 gene associated with neonatal onset of neurodegenerative disorder and intractable seizure.

Molecular Genetics & Genomic Medicine

Al Zaabi, Nuha N; Al Menhali, Noora N; Al-Jasmi, Fatma F

Publication Date: 2018-01

Variant appearance in text: SYNJ1: 709C>T

PubMed Link: 29179256

Variant Present in the following documents:

• Main text
• MGG3-6-109.pdf

View BVdb publication page