Familial partial epilepsy with variable foci (FPEVF)

Evidence-based neurology checklist on familial partial epilepsy with variable foci (fpevf): Genetics This is a familial partial epilepsy It is usually caused by mutations of the DEPDC5 gene on chromosomes 22 The transmission is autosomal dominant Clinical features Associations of DEPDC5 mutations…

Genetics

  • This is a familial partial epilepsy
  • It is usually caused by mutations of the DEPDC5 gene on chromosomes 22
  • The transmission is autosomal dominant

Clinical features

Associations of DEPDC5 mutations

Differential diagnosis

Investigations

Treatment

References

  1. Morales-Corraliza J, Gómez-Garre P, Sanz R, Díaz-Otero F, Gutiérrez-Delicado E, Serratosa JM. Familial partial epilepsy with variable foci: a new family with suggestion of linkage to chromosome 22q12. Epilepsia 2010; 51:1910-1914.
  2. Berkovic SF, Serratosa JM, Phillips HA, et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004; 45:1054-1060.
  3. Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013; 45:546-551.
  4. Baulac S, Ishida S, Marsan E, et al. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol 2015; 77:675-683.
  5. Nascimento FA, Borlot F, Cossette P, Minassian BA, Andrade DM. Two definite cases of sudden unexpected death in epilepsy in a family with a DEPDC5 mutation. Neurol Genet 2015; 1:e28.
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