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No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. (Articolo in rivista)

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No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. (Articolo in rivista) (literal)

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*1 Laura Mumoli, +1 Patrizia Tarantino, ?Roberto Michelucci, §Amedeo Bianchi, *+Angelo Labate, ¶Silvana Franceschetti, #Carla Marini, **Pasquale Striano, *+Monica Gagliardi, *++Edoardo Ferlazzo, ??Vito Sofia, **Loredana Pennese, +Grazia Annesi, *++Umberto Aguglia, #Renzo Guerrini, **Federico Zara, *+Antonio Gambardella, and on behalf of the Genetic Commission, Italian League Against Epilepsy (2015)
No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy.
in Epilepsia (Cph.)
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*1 Laura Mumoli, +1 Patrizia Tarantino, ?Roberto Michelucci, §Amedeo Bianchi, *+Angelo Labate, ¶Silvana Franceschetti, #Carla Marini, **Pasquale Striano, *+Monica Gagliardi, *++Edoardo Ferlazzo, ??Vito Sofia, **Loredana Pennese, +Grazia Annesi, *++Umberto Aguglia, #Renzo Guerrini, **Federico Zara, *+Antonio Gambardella, and on behalf of the Genetic Commission, Italian League Against Epilepsy (literal)

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1. These authors contributed equally to this study * Institute of Neurology, University Magna Græcia Catanzaro, Catanzaro, Italy; + Institute of Molecular Bioimaging and Physiology, Section of Germaneto, National Research Council, Catanzaro, Italy; ? Division of Neurology, IRCCS--Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy; § Division of Neurology, Hospital San Donato Arezzo, Arezzo, Italy; ¶ Department of Neurophysiopathology and Epilepsy Centre, IRCCS Foundation C. Besta Neurological Institute, Milan, Italy; #Pediatric Neurology Unit, Neuroscience Department, Children's Hospital A. Meyer-University of Florence, Firenze, Italy; ** Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, G. Gaslini Institute, University of Genoa, Genoa, Italy; ++ Regional Epilepsy Center, Hospital of Reggio Calabria, Reggio Calabria, Italy; ?? Section of Neurosciences, Department GF Ingrassia, University of Catania, Catania, Italy (literal)

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No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy. (literal)

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 (literal)

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