KEGG   DISEASE: Familial focal epilepsy with variable foci
Entry
H02214                      Disease                                
Name
Familial focal epilepsy with variable foci
Description
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Recently, it has been identified that mutations in the mTOR pathway regulators, DEPDC5, NPRL2 and NPRL3 cause this disease.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Epilepsy or seizures
   8A61  Genetic or presumed genetic syndromes primarily expressed as epilepsy
    H02214  Familial focal epilepsy with variable foci
Pathway-based classification of diseases [BR:br08402]
 Signal transduction
  nt06522  mTOR signaling
   H02214  Familial focal epilepsy with variable foci
Pathway
hsa04150  mTOR signaling pathway
Network
nt06522 mTOR signaling
Gene
(FFEVF1) DEPDC5 [HSA:9681] [KO:K20404]
(FFEVF2) NPRL2 [HSA:10641] [KO:K20405]
(FFEVF3) NPRL3 [HSA:8131] [KO:K20406]
(FFEVF4) SCN3A [HSA:6328] [KO:K04836]
Other DBs
ICD-11: 8A61.4Y
MeSH: D004828
OMIM: 604364 617116 617118 617935
Reference
PMID:22780917
  Authors
Klein KM, O'Brien TJ, Praveen K, Heron SE, Mulley JC, Foote S, Berkovic SF, Scheffer IE
  Title
Familial focal epilepsy with variable foci mapped to chromosome 22q12: expansion of the phenotypic spectrum.
  Journal
Epilepsia 53:e151-5 (2012)
DOI:10.1111/j.1528-1167.2012.03585.x
Reference
PMID:25623524 (DEPDC5)
  Authors
Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F
  Title
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
  Journal
Ann Neurol 77:675-83 (2015)
DOI:10.1002/ana.24368
Reference
PMID:26505888 (NPRL2 NPRL3)
  Authors
Ricos MG, Hodgson BL, Pippucci T, Saidin A, Ong YS, Heron SE, Licchetta L, Bisulli F, Bayly MA, Hughes J, Baldassari S, Palombo F, Santucci M, Meletti S, Berkovic SF, Rubboli G, Thomas PQ, Scheffer IE, Tinuper P, Geoghegan J, Schreiber AW, Dibbens LM
  Title
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
  Journal
Ann Neurol 79:120-31 (2016)
DOI:10.1002/ana.24547
Reference
PMID:24157691 (SCN3A)
  Authors
Vanoye CG, Gurnett CA, Holland KD, George AL Jr, Kearney JA
  Title
Novel SCN3A variants associated with focal epilepsy in children.
  Journal
Neurobiol Dis 62:313-22 (2014)
DOI:10.1016/j.nbd.2013.10.015
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