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

Epilepsia
Laura MumoliGenetic Commission, Italian League Against Epilepsy

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.

References

Dec 18, 2002·Journal of Neuropathology and Experimental Neurology·Patrick ShannonRichard M Myers
Jun 28, 2003·American Journal of Human Genetics·Deb K PalDavid A Greenberg
Jul 20, 2004·Nature Genetics·Toshimitsu SuzukiKazuhiro Yamakawa
Aug 27, 2004·Epilepsia·Gerrit-Jan de HaanDick Lindhout
Feb 27, 2007·Epilepsia·Allen KaasikAlexander Zharkovsky
Mar 8, 2008·Epilepsia·Reetta KälviäinenEsa Mervaala
May 23, 2012·American Journal of Human Genetics·Katherine R SmithSamuel F Berkovic

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Citations

Sep 26, 2019·Frontiers in Neurology·Sarah MartinKarl Martin Klein
May 18, 2021·Expert Review of Neurotherapeutics·Michele AscoliEdoardo Ferlazzo

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