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No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy
Author(s) -
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
Publication year - 2015
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.12944
Subject(s) - juvenile myoclonic epilepsy , progressive myoclonus epilepsy , myoclonus , epilepsy , proband , genetics , epilepsy syndromes , biology , mutation , myoclonic epilepsy , generalized epilepsy , medicine , gene , neuroscience
Summary 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; EPM 1), a form of progressive myoclonus epilepsy characterized by myoclonus, epilepsy, and gradual neurologic deterioration. EPM 1 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 .