KEGG DISEASE: Familial epilepsy temporal lobe (ETL)

KEGG

DISEASE: Familial epilepsy temporal lobe (ETL)

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 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)
Pathway-based classification of diseases [BR:br08402]
Endocrine system
  nt06325  Hormone/cytokine signaling
   H00809  Familial epilepsy temporal lobe (ETL)

Network

nt06325 Hormone/cytokine signaling

Gene

(ETL1) LGI1 [HSA:9211] [KO:K25428]
(ETL5) CPA6 [HSA:57094] [KO:K08782]
(ETL7) RELN [HSA:5649] [KO:K06249]
(ETL8) GAL [HSA:51083] [KO:K05244]

Other DBs

ICD-11:

ICD-10:

MeSH:

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

LinkDB

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