No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy

作者：Mumoli Laura; Tarantino Patrizia; Michelucci Roberto; Bianchi Amedeo; Labate Angelo; Franceschetti Silvana; Marini Carla; Striano Pasquale; Gagliardi Monica; Ferlazzo Edoardo; Sofia Vito; Pennese Loredana; Annesi Grazia; Aguglia Umberto; Guerrini Renzo; Zara Federico; Gambardella Antonio^*

来源：Epilepsia, 2015, 56(4): E40-E43.

DOI：10.1111/epi.12944

• Cystatin B gene
• Juvenile myoclonic epilepsy
• EPM1
• Mutation
• Genetics

Genetic factors play a major role in the etiology of juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, but so far, genes related to JME remain largely unknown. JME shares electroclinical features with Unverricht-Lundborg disease (progressive myoclonic epilepsy type 1; EPM1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. EPM1 is caused by mutations in the gene that codes for cystatin B (CSTB), an inhibitor of cysteine protease. In the present study, we wished to investigate the role of the CSTB gene in patients with JME. Fifty-seven unrelated patients (35 women; mean age +/- standard deviation [SD], 24.1 +/- 7.7; mean age +/- SD at onset, 15.3 +/- 2.4) with JME were enrolled. Twenty-three of 57 patients were the probands of families with JME. The molecular diagnosis was carried out to identify the common dodecamer repeat expansion mutation or other disease-causing mutations in the CSTB gene. The molecular analysis did not depict mutations in any of the 57 patients with JME. Our study did not support a role for the CSTB gene in patients with familial or sporadic JME.

• 出版日期2015-4