Abstract:
: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.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Mumoli L,Tarantino P,Michelucci R,Bianchi A,Labate A,Franceschetti S,Marini C,Striano P,Gagliardi M,Ferlazzo E,Sofia V,Pennese L,Annesi G,Aguglia U,Guerrini R,Zara F,Gambardella A,Genetic Commission, Italian League Agaidoi
10.1111/epi.12944subject
Has Abstractpub_date
2015-04-01 00:00:00pages
e40-3issue
4eissn
0013-9580issn
1528-1167journal_volume
56pub_type
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