TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?
Cytogenet Genome Res
; 154(1): 1-5, 2018.
Article
in En
| MEDLINE
| ID: mdl-29490292
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) ß 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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Gene Deletion
/
DNA Topoisomerases, Type I
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Myoclonic Epilepsy, Juvenile
Limits:
Adult
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Female
/
Humans
/
Male
Language:
En
Journal:
Cytogenet Genome Res
Year:
2018
Document type:
Article