John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the

DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family Volume 21, numéro 1, February 2019

Vidéo

  • DEPDC5 mutation and familial focal epilepsy with variable foci: genotype and phenotype of a family

Illustrations

  • Figure 1
  • Figure 2
Auteurs
1 Division of Neuropediatrics, Italian Hospital of Buenos Aires, CABA
2 Consultorio y laboratorio de Neurogenética, Centro Universitario de Neurología “J.M. Ramos Mejía” and División Neurología, Hospital JM Ramos Mejía, Facultad de Medicina, UBA, CABA
3 IBCN Eduardo de Robertis, Facultad de Medicina, UBA-CONICET, CABA
4 Bahía Blanca Italian Hospital, Bahía Blanca, Buenos Aires
5 Neurología Infantil, Hospital Italiano de Buenos Aires, CABA, Argentina
* Correspondence: Marina Aberastury Division of Neuropediatrics, Italian Hospital of Buenos Aires, 4135 Potosí St., CABA Argentina
  • Mots-clés : familial focal epilepsy with variable foci, DEPDC5, semiology, occipital seizure semiology, frontal seizures
  • DOI : 10.1684/epd.2019.1025
  • Page(s) : 42-7
  • Année de parution : 2019

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.