79046 20230921135428.0 doi 10.1016/j.ebcr.2019.03.003 sideral 111601 ART-2019-111601 eng Viloria-Alebesque, A. Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3 2019 Access copy available to the general public Unrestricted 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... info:eu-repo/semantics/openAccess by-nc-nd http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion Bellosta-Diago, E. Universidad de Zaragoza (orcid)0000-0002-0002-8041 Santos-Lasaosa, S. Universidad de Zaragoza (orcid)0000-0001-5139-6031 Mauri-Llerda, J.Á. Universidad de Zaragoza (orcid)0000-0001-8530-0616 1007 610 Universidad de Zaragoza Dpto. Medicina, Psiqu. y Derm. Area Medicina 11 (2019), 122-124 Epilepsy and Behavior Case Reports 2213-3232 134108 http://zaguan.unizar.es/record/79046/files/texto_completo.pdf Versión publicada 101473 http://zaguan.unizar.es/record/79046/files/texto_completo.jpg?subformat=icon icon Versión publicada oai:zaguan.unizar.es:79046 articulos driver 2023-09-21-13:29:34 ARTICLE