| Literature DB >> 29490292 |
Marwa Daghsni1, Saida Lahbib, Mohamed Fradj, Marwa Sayeb, Wided Kelmemi, Lilia Kraoua, Mariem Kchaou, Faouzi Maazoul, Slim Echebbi, Nadia Ben Ali, Sonia Abdelhak, Ridha 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.Entities:
Keywords: 22q11.2 microdeletion/duplication syndrome; <italic>TOP3B</italic>; Copy number variants; Juvenile myoclonic epilepsy
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Year: 2018 PMID： 29490292 DOI： 10.1159/000486945
Source DB: PubMed Journal: Cytogenet Genome Res ISSN： 1424-8581 Impact factor: 1.636