000079046 001__ 79046
000079046 005__ 20230921135428.0
000079046 0247_ $$2doi$$a10.1016/j.ebcr.2019.03.003
000079046 0248_ $$2sideral$$a111601
000079046 037__ $$aART-2019-111601
000079046 041__ $$aeng
000079046 100__ $$aViloria-Alebesque, A.
000079046 245__ $$aFamilial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3
000079046 260__ $$c2019
000079046 5060_ $$aAccess copy available to the general public$$fUnrestricted
000079046 5203_ $$aMuscular 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...
000079046 540__ $$9info:eu-repo/semantics/openAccess$$aby-nc-nd$$uhttp://creativecommons.org/licenses/by-nc-nd/3.0/es/
000079046 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000079046 700__ $$0(orcid)0000-0002-0002-8041$$aBellosta-Diago, E.$$uUniversidad de Zaragoza
000079046 700__ $$0(orcid)0000-0001-5139-6031$$aSantos-Lasaosa, S.$$uUniversidad de Zaragoza
000079046 700__ $$0(orcid)0000-0001-8530-0616$$aMauri-Llerda, J.Á.$$uUniversidad de Zaragoza
000079046 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000079046 773__ $$g11 (2019), 122-124$$tEpilepsy and Behavior Case Reports$$x2213-3232
000079046 8564_ $$s134108$$uhttps://zaguan.unizar.es/record/79046/files/texto_completo.pdf$$yVersión publicada
000079046 8564_ $$s101473$$uhttps://zaguan.unizar.es/record/79046/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000079046 909CO $$ooai:zaguan.unizar.es:79046$$particulos$$pdriver
000079046 951__ $$a2023-09-21-13:29:34
000079046 980__ $$aARTICLE