DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family.
Epileptic Disord
; 21(1): 42-47, 2019 Feb 01.
Article
en En
| MEDLINE
| ID: mdl-30767899
ABSTRACT
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. We describe three members of a two-generation Argentine family with familial focal epilepsy with variable foci syndrome and a DEPDC5 gene mutation. 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). 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].
Palabras clave
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Proteínas Represoras
/
Epilepsias Parciales
/
Síndromes Epilépticos
Límite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Argentina
Idioma:
En
Revista:
Epileptic Disord
Asunto de la revista:
CEREBRO
/
NEUROLOGIA
Año:
2019
Tipo del documento:
Article