| H00809 | |
| H number | H00809 |
| Name | Familial epilepsy temporal lobe (ETL) |
| 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 |
| Network | - |
| 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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8A61.3Y ICD-10: G40.1 MeSH: C537297 OMIM: 600512 614417 616436 616461 |
| Reference | PMID:21444903 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 PMID:19469848 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 PMID:19191227 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 PMID:21922598 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 PMID:26046367 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 PMID:25691535 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 |