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Article

TOP3B: A Novel Candidate Gene in Juvenile Myoclonic Epilepsy?

Cytogenetic and genome research - 1 Jan 2018

Daghsni Marwa, Lahbib Saida, Fradj Mohamed, Sayeb Marwa, Kelmemi Wided, Kraoua Lilia, Kchaou Mariem, Maazoul Faouzi, Echebbi Slim, Ben Ali Nadia, Abdelhak Sonia, M'rad Ridha

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 29490292
DOI: 10.1159/000486945

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