| H00809 | |
| H番号 | H00809 |
| 名称 | 家族性側頭葉てんかん |
| 概要 | 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. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (ETL1) LGI1 [HSA:9211] [KO:K25428] (ETL5) CPA6 [HSA:57094] [KO:K08782] (ETL7) RELN [HSA:5649] [KO:K06249] (ETL8) GAL [HSA:51083] [KO:K05244] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8A61.3Y ICD-10: G40.1 MeSH: C537297 OMIM: 600512 614417 616436 616461 |
| 文献 | PMID:21444903 著者 Striano P, Busolin G, Santulli L, Leonardi E, Coppola A, Vitiello L, Rigon L, Michelucci R, Tosatto SC, Striano S, Nobile C タイトル Familial temporal lobe epilepsy with psychic auras associated with a novel LGI1 mutation. 雑誌 Neurology 76:1173-6 (2011) DOI:10.1212/WNL.0b013e318212ab2e PMID:19469848 著者 Michelucci R, Pasini E, Nobile C タイトル Lateral temporal lobe epilepsies: clinical and genetic features. 雑誌 Epilepsia 50 Suppl 5:52-4 (2009) DOI:10.1111/j.1528-1167.2009.02122.x PMID:19191227 著者 Nobile C, Michelucci R, Andreazza S, Pasini E, Tosatto SC, Striano P タイトル LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 雑誌 Hum Mutat 30:530-6 (2009) DOI:10.1002/humu.20925 PMID:21922598 著者 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 タイトル Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy. 雑誌 Hum Mutat 33:124-35 (2012) DOI:10.1002/humu.21613 PMID:26046367 著者 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 タイトル Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy. 雑誌 Am J Hum Genet 96:992-1000 (2015) DOI:10.1016/j.ajhg.2015.04.020 PMID:25691535 著者 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 タイトル Galanin pathogenic mutations in temporal lobe epilepsy. 雑誌 Hum Mol Genet 24:3082-91 (2015) DOI:10.1093/hmg/ddv060 |