KEGG   DISEASE: Familial epilepsy temporal lobe (ETL)Help
Entry
H00809                      Disease                                

Name
Familial epilepsy temporal lobe (ETL)
  Subgroup
Autosomal dominant temporal lobe epilepsy (ADTLE)
Autosomal dominant partial epilepsy with auditory features (ADPEAF)
Description
Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early adulthood of lateral temporal seizures with predominant auditory symptoms originating from the lateral temporal lobe cortex. Mutations in the leucine-rich glioma-inactivated 1 (LGI1) gene have been reported in up to 50% of ADTLE/ADPEAF pedigrees. In addition, de novo LGI1 mutations are found in about 2% of sporadic cases with idiopathic partial epilepsy with auditory features, who are clinically similar to the majority of patients with ADLTE/ADPEAF but have no family history.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Epilepsy
   H00809  Familial epilepsy temporal lobe (ETL)
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
    H00809  Familial epilepsy temporal lobe (ETL)
BRITE hierarchy
Gene
(ETL1) LGI1 [HSA:9211]
(ETL5) CPA6 [HSA:57094] [KO:K08782]
(ETL7) RELN [HSA:5649] [KO:K06249]
(ETL8) GAL [HSA:51083] [KO:K05244]
Other DBs
ICD-11: 8A61.3Y
ICD-10: G40.1
MeSH: C537297
OMIM: 600512 614417 616436 616461
Reference
  Authors
Striano P, Busolin G, Santulli L, Leonardi E, Coppola A, Vitiello L, Rigon L, Michelucci R, Tosatto SC, Striano S, Nobile C
  Title
Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation.
  Journal
Neurology 76:1173-6 (2011)
DOI:10.1212/WNL.0b013e318212ab2e
Reference
  Authors
Michelucci R, Pasini E, Nobile C
  Title
Lateral temporal lobe epilepsies: clinical and genetic features.
  Journal
Epilepsia 50 Suppl 5:52-4 (2009)
DOI:10.1111/j.1528-1167.2009.02122.x
Reference
  Authors
Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P
  Title
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy.
  Journal
Hum Mutat 30:530-6 (2009)
DOI:10.1002/humu.20925
Reference
  Authors
Salzmann A, Guipponi M, Lyons PJ, Fricker LD, Sapio M, Lambercy C, Buresi C, Ouled Amar Bencheikh B, Lahjouji F, Ouazzani R, Crespel A, Chaigne D, Malafosse A
  Title
Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
  Journal
Hum Mutat 33:124-35 (2012)
DOI:10.1002/humu.21613
Reference
  Authors
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C
  Title
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
  Journal
Am J Hum Genet 96:992-1000 (2015)
DOI:10.1016/j.ajhg.2015.04.020
Reference
  Authors
Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel U, Antonarakis SE
  Title
Galanin pathogenic mutations in temporal lobe epilepsy.
  Journal
Hum Mol Genet 24:3082-91 (2015)
DOI:10.1093/hmg/ddv060

» Japanese version

DBGET integrated database retrieval system