TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Cytogenetic and Genome Research
Marwa DaghsniRidha M'rad

Abstract

Juvenile myoclonic epilepsy (JME) is characterized by seizures, severe cognitive abnormalities, and behavior impairments. These features could evolve over time and get worse, especially when the encephalopathy is pharmacoresistant. Thus, genetic studies should provide a better understanding of infantile epilepsy syndromes. Herein, we investigate the genetics of JME in a consanguineous family analyzing the copy number variations detected using over 700 K SNP arrays. We identified a 254-kb deletion in the 22q11.2 region, including only the TOP3B gene, detected in the patient and her father. TOP3B encodes a topoisomerase DNA (III) β protein and has been implicated in several neurological diseases such as schizophrenia and autism. In this study, we discuss the implication of the 22q11.2 region in neurodevelopmental disorders and the association of TOP3B with epilepsy.

Citations

Nov 7, 2019·Genes·Seung Kyu Lee, Weidong Wang
Dec 5, 2019·Open Biology·Tao ZhangDamien F Hudson
Apr 12, 2020·The Journal of Biological Chemistry·Anna H Bizard, Ian D Hickson
Oct 22, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Tumpa DasguptaYuk-Ching Tse-Dinh
May 18, 2021·Journal of Molecular Evolution·Filipa MoreiraFilipe Pereira
Oct 19, 2021·Frontiers in Genetics·Chia-Hsiang ChenLieh-Yung Ping

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