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Familial temporal lobe epilepsy 7(ETL7)

MedGen UID:
907609
Concept ID:
C4225327
Disease or Syndrome
Synonyms: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7
 
Gene (location): RELN (7q22.1)
 
Monarch Initiative: MONDO:0014639
OMIM®: 616436

Disease characteristics

Autosomal dominant epilepsy with auditory features (ADEAF) is a focal epilepsy syndrome with auditory symptoms and/or receptive aphasia as prominent ictal manifestations. The most common auditory symptoms are simple unformed sounds including humming, buzzing, or ringing; less common forms are distortions (e.g., volume changes) or complex sounds (e.g., specific songs or voices). Ictal receptive aphasia consists of a sudden onset of inability to understand language in the absence of general confusion. Less commonly, other ictal symptoms may occur, including sensory symptoms (visual, olfactory, vertiginous, or cephalic) or motor, psychic, and autonomic symptoms. Age at onset is usually in adolescence or early adulthood (age 10-30 years). The clinical course of ADEAF is benign. Seizures are usually well controlled after initiation of medical therapy. [from GeneReviews]
Authors:
Roberto Michelucci  |  Elena Pasini  |  Emanuela Dazzo   view full author information

Additional description

From OMIM
Familial temporal lobe epilepsy-7 (ETL7) is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by Dazzo et al., 2015). For a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see ETL1 (600512).  http://www.omim.org/entry/616436

Clinical features

From HPO
Focal sensory seizure with auditory features
MedGen UID:
373879
Concept ID:
C1838063
Pathologic Function
A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation.

Recent clinical studies

Etiology

Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA
Neurology 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e. PMID: 15079011Free PMC Article
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

Diagnosis

Zhang L, Jia Y, Wang Y
J Clin Neurosci 2020 Apr;74:268-270. Epub 2020 Feb 5 doi: 10.1016/j.jocn.2020.01.091. PMID: 32035795
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA
Neurology 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e. PMID: 15079011Free PMC Article
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362
Gambardella A, Messina D, Le Piane E, Oliveri RL, Annesi G, Zappia M, Andermann E, Quattrone A, Aguglia U
Epilepsy Res 2000 Feb;38(2-3):127-32. doi: 10.1016/s0920-1211(99)00080-7. PMID: 10642040

Therapy

Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937

Prognosis

Eadie M
Seizure 2018 Jan;54:7-10. Epub 2017 Nov 14 doi: 10.1016/j.seizure.2017.11.010. PMID: 29172094
Di Bonaventura C, Operto FF, Busolin G, Egeo G, D'Aniello A, Vitello L, Smaniotto G, Furlan S, Diani E, Michelucci R, Giallonardo AT, Coppola G, Nobile C
Epilepsia 2011 Jul;52(7):1258-64. Epub 2011 Apr 19 doi: 10.1111/j.1528-1167.2011.03071.x. PMID: 21504429
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA
Neurology 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e. PMID: 15079011Free PMC Article

Clinical prediction guides

Di Bonaventura C, Operto FF, Busolin G, Egeo G, D'Aniello A, Vitello L, Smaniotto G, Furlan S, Diani E, Michelucci R, Giallonardo AT, Coppola G, Nobile C
Epilepsia 2011 Jul;52(7):1258-64. Epub 2011 Apr 19 doi: 10.1111/j.1528-1167.2011.03071.x. PMID: 21504429
Angelicheva D, Tournev I, Guergueltcheva V, Mihaylova V, Azmanov DN, Morar B, Radionova M, Smith SJ, Zlatareva D, Stevens JM, Kaneva R, Bojinova V, Carter K, Brown M, Jablensky A, Kalaydjieva L, Sander JW
Epilepsia 2009 Jul;50(7):1679-88. Epub 2009 Mar 23 doi: 10.1111/j.1528-1167.2009.02066.x. PMID: 19400876
Ottman R, Winawer MR, Kalachikov S, Barker-Cummings C, Gilliam TC, Pedley TA, Hauser WA
Neurology 2004 Apr 13;62(7):1120-6. doi: 10.1212/01.wnl.0000120098.39231.6e. PMID: 15079011Free PMC Article
Kobayashi E, Santos NF, Torres FR, Secolin R, Sardinha LA, Lopez-Cendes I, Cendes F
Arch Neurol 2003 Nov;60(11):1546-51. doi: 10.1001/archneur.60.11.1546. PMID: 14623726
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

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