Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3

Alejandro Viloria-Alebesque; Elena Bellosta-Diago; Sonia Santos-Lasaosa; José Ángel Mauri-Llerda

doi:10.1016/j.ebcr.2019.03.003

Familial association of genetic generalised epilepsy with limb-girdle muscular dystrophy through a mutation in CAPN3

Epilepsy Behav Case Rep. 2019 Mar 21:11:122-124. doi: 10.1016/j.ebcr.2019.03.003. eCollection 2019.

Authors

Alejandro Viloria-Alebesque^{1

2}, Elena Bellosta-Diago^{3

2}, Sonia Santos-Lasaosa^{3

2}, José Ángel Mauri-Llerda^{3

2}

Affiliations

¹ Hospital General de la Defensa, Vía Ibérica 1, 50009 Zaragoza, Spain.
² Instituto de Investigación Sanitaria Aragón, Centro de Investigación Biomédica de Aragón, Avda. San Juan Bosco 13, 50009 Zaragoza, Spain.
³ Hospital Clínico Universitario Lozano Blesa, Avda. San Juan Bosco 15, 50009 Zaragoza, Spain.

Abstract

•We present a family that includes members with phenotypes of generalized epilepsy and limb-girdle muscular dystrophy.•Subjects with heterozygous mutation developed epilepsy; a subject with homozygous mutation developed limb-girdle dystrophy.•Mutations in CAPN3 may play a role in the complex genetics of genetic generalized epilepsies.

Publication types

Case Reports