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; SILVA, WALTER

EPILEPTIC DISORDERS

JOHN LIBBEY EUROTEXT LTD

Año: 2019 vol. 21 p. 42 - 47

1294-9361

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].