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<dc:dc xmlns:dc="http://purl.org/dc/elements/1.1/" xmlns:invenio="http://invenio-software.org/elements/1.0" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance" xsi:schemaLocation="http://www.openarchives.org/OAI/2.0/oai_dc/ http://www.openarchives.org/OAI/2.0/oai_dc.xsd"><dc:identifier>doi:10.1016/j.ebcr.2019.03.003</dc:identifier><dc:language>eng</dc:language><dc:creator>Viloria-Alebesque, A.</dc:creator><dc:creator>Bellosta-Diago, E.</dc:creator><dc:creator>Santos-Lasaosa, S.</dc:creator><dc:creator>Mauri-Llerda, J.Á.</dc:creator><dc:title>Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3</dc:title><dc:identifier>ART-2019-111601</dc:identifier><dc:description>Muscular dystrophies are a heterogeneous group of inherited dis-eases that cause progressive muscle weakness. The association of epi-lepsy with some of these diseases has been previously described andhas most commonly been found for Fukuyama-type muscular dystro-phy due to alterations in cerebral neuronal migration[1]. Among mus-cular dystrophies,  limb-girdle muscular dystrophies (LGMDs)represent the fourth most common group, with a prevalence of 1.63per 100, 000 individuals[2]. The diseases in this group share a commonphenotype involving progressive weakness of the scapular and pelvicgirdles that starts after 2 years of age and can be accompanied by differ-ent degrees of elevation in blood creatine kinase (CK) levels and by var-ious anatomic pathologicalfindings. LGMDs are subdivided into LGMD1and LGMD2 depending on whether the inheritance is dominant or re-cessive, respectively. LGMD2A, which is caused by deficiency of thecalpain 3 protein owing to mutations in theCAPN3gene, is the mostcommon form of LGMD in Europe and America[2]. Its associationwith epilepsy has been described in only two isolated cases[1, 3], bothof them on the spectrum of genetic generalised epilepsies (GGEs). Thelatter are the most common group of epilepsies with genetic aetiology, accounting for 15–20% of all epilepsy cases[4]. Nonetheless, none of thegenes usually involved in monogenic epilepsies seem to play a majorrole in GGE, probably indicating a polygenic predisposition to GGE andtherefore a complex inheritance pattern[5]. Here, we describe a family...</dc:description><dc:date>2019</dc:date><dc:source>http://zaguan.unizar.es/record/79046</dc:source><dc:doi>10.1016/j.ebcr.2019.03.003</dc:doi><dc:identifier>http://zaguan.unizar.es/record/79046</dc:identifier><dc:identifier>oai:zaguan.unizar.es:79046</dc:identifier><dc:identifier.citation>Epilepsy and Behavior Case Reports 11 (2019), 122-124</dc:identifier.citation><dc:rights>by-nc-nd</dc:rights><dc:rights>http://creativecommons.org/licenses/by-nc-nd/3.0/es/</dc:rights><dc:rights>info:eu-repo/semantics/openAccess</dc:rights></dc:dc>

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