Artículo
DEPDC5 mutation and familial focal epilepsy with variable foci: Genotype and phenotype of a family
Aberastury, Marina; Fernández, Romina; Córdoba, Marta
; Comas, Betiana; Peralta, Martín; Agosta, Guillermo; Kauffman, Marcelo Andres
; Silva, Walter
Fecha de publicación:
02/2019
Editorial:
Wiley Blackwell Publishing, Inc
Revista:
Epileptic Disorders
ISSN:
1294-9361
e-ISSN:
1950-6945
Idioma:
Inglés
Tipo de recurso:
Artículo publicado
Clasificación temática:
Resumen
Aims. Familial focal epilepsy with variable foci is a relatively rare autosomal disease with an unclear incidence, which is characterized by focal seizures arising from different cortical regions in different family members. Methods. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. Results. The mean onset age was nine years old. The father experienced episodes with occipital semiology and both siblings exhibited frontal lobe seizures. Their neurological examination and neuroimaging studies were normal. All three patients are currently seizure-free, in spite of initially experiencing frequent seizures. Complete exome sequencing revealed a new DEPDC5 gene mutation (NM_001242896: c.4718T>C; p.L1573P). Conclusions. This study of a family with clinical characteristics that met all the criteria for familial focal epilepsy with variable foci demonstrates the usefulness of exome sequencing as a diagnostic tool. [Published with video sequence on www.epilepticdisorders.com].
Archivos asociados
Licencia
Identificadores
Colecciones
Articulos(IBCN)
Articulos de INST.DE BIOLO.CEL.Y NEURCS."PROF.E.DE ROBERTIS"
Articulos de INST.DE BIOLO.CEL.Y NEURCS."PROF.E.DE ROBERTIS"
Articulos(IIMT)
Articulos de INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Articulos de INSTITUTO DE INVESTIGACIONES EN MEDICINA TRASLACIONAL
Citación
Aberastury, Marina; Fernández, Romina; Córdoba, Marta; Comas, Betiana; Peralta, Martín; et al.; DEPDC5 mutation and familial focal epilepsy with variable foci: Genotype and phenotype of a family; Wiley Blackwell Publishing, Inc; Epileptic Disorders; 21; 1; 2-2019; 42-47
Compartir
Altmétricas