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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.

Professional guidelines

PubMed

Hamed SA, Attiah FA
Neurol Res 2019 Nov;41(11):959-966. Epub 2019 Jul 6 doi: 10.1080/01616412.2019.1638017. PMID: 31280704
Bjørke AB, Nome CG, Falk RS, Gjerstad L, Taubøll E, Heuser K
Seizure 2018 Oct;61:63-70. Epub 2018 Jul 17 doi: 10.1016/j.seizure.2018.07.011. PMID: 30099235
Kuzmanovski I, Cvetkovska E, Babunovska M, Kiteva Trencevska G, Kuzmanovska B, Boshkovski B, Isjanovska R
Clin Neurol Neurosurg 2016 May;144:91-5. Epub 2016 Mar 24 doi: 10.1016/j.clineuro.2016.03.018. PMID: 27037863

Recent clinical studies

Etiology

Maurer-Morelli CV, de Vasconcellos JF, Bruxel EM, Rocha CS, do Canto AM, Tedeschi H, Yasuda CL, Cendes F, Lopes-Cendes I
Exp Biol Med (Maywood) 2022 Dec;247(24):2233-2250. Epub 2022 Oct 19 doi: 10.1177/15353702221126666. PMID: 36259630Free PMC Article
Tang C, Wang H, Wu H, Yan S, Han Z, Jiang Z, Na M, Guo M, Lu D, Lin Z
Cell Mol Neurobiol 2019 Apr;39(3):461-470. Epub 2019 Feb 21 doi: 10.1007/s10571-019-00662-y. PMID: 30790096Free PMC Article
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M
Lancet Neurol 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. PMID: 15207799
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266
Watanabe K, Yamamoto N, Negoro T, Takahashi I, Aso K, Maehara M
J Clin Neurophysiol 1990 Jul;7(3):409-16. doi: 10.1097/00004691-199007000-00006. PMID: 2211995

Diagnosis

Guzmán-Jiménez DE, Campos JB, Venegas-Vega CA, Sánchez MA, Velasco AL
Epilepsy Res 2020 Nov;167:106450. Epub 2020 Sep 1 doi: 10.1016/j.eplepsyres.2020.106450. PMID: 32949980
Geyer JD, Geyer EE, Fetterman Z, Carney PR
Epilepsy Behav 2017 Mar;68:41-44. Epub 2017 Jan 19 doi: 10.1016/j.yebeh.2016.12.010. PMID: 28109988
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266
Bernasconi A, Andermann F, Cendes F, Dubeau F, Andermann E, Olivier A
Neurology 1998 Jun;50(6):1772-7. doi: 10.1212/wnl.50.6.1772. PMID: 9633726
Watanabe K, Yamamoto N, Negoro T, Takahashi I, Aso K, Maehara M
J Clin Neurophysiol 1990 Jul;7(3):409-16. doi: 10.1097/00004691-199007000-00006. PMID: 2211995

Therapy

Stefanatou M, Gatzonis S, Peskostas A, Paraskevas G, Koutroumanidis M
Postgrad Med 2019 Sep;131(7):479-485. Epub 2019 Sep 12 doi: 10.1080/00325481.2019.1663126. PMID: 31513436
Hamed SA, Attiah FA
Neurol Res 2019 Nov;41(11):959-966. Epub 2019 Jul 6 doi: 10.1080/01616412.2019.1638017. PMID: 31280704
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266
Bernasconi A, Andermann F, Cendes F, Dubeau F, Andermann E, Olivier A
Neurology 1998 Jun;50(6):1772-7. doi: 10.1212/wnl.50.6.1772. PMID: 9633726
Gilligan B
Aust Fam Physician 1976 Aug;5(7):910-20, 926, 929-30. PMID: 11767

Prognosis

Tang C, Wang H, Wu H, Yan S, Han Z, Jiang Z, Na M, Guo M, Lu D, Lin Z
Cell Mol Neurobiol 2019 Apr;39(3):461-470. Epub 2019 Feb 21 doi: 10.1007/s10571-019-00662-y. PMID: 30790096Free PMC Article
Eadie M
Seizure 2018 Jan;54:7-10. Epub 2017 Nov 14 doi: 10.1016/j.seizure.2017.11.010. PMID: 29172094
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461
Shneker BF, Fountain NB
Dis Mon 2003 Jul;49(7):426-78. doi: 10.1016/s0011-5029(03)00065-8. PMID: 12838266
Watanabe K, Yamamoto N, Negoro T, Takahashi I, Aso K, Maehara M
J Clin Neurophysiol 1990 Jul;7(3):409-16. doi: 10.1097/00004691-199007000-00006. PMID: 2211995

Clinical prediction guides

Panza N, Bianchini C, Cetica V, Balestrini S, Barba C, Ferrari AR, Mei D, Parmeggiani L, Parrini E, Guerrini R
Epilepsia Open 2024 Feb;9(1):417-423. Epub 2023 Dec 15 doi: 10.1002/epi4.12843. PMID: 37805811Free PMC Article
Videira G, Gabriel D, Freitas J, Samões R, Chorão R, Lopes J, Ramalheira J, Lemos C, Leal B, da Silva AM, Chaves J
Seizure 2021 Oct;91:167-171. Epub 2021 Jun 16 doi: 10.1016/j.seizure.2021.06.014. PMID: 34171625
Guzmán-Jiménez DE, Campos JB, Venegas-Vega CA, Sánchez MA, Velasco AL
Epilepsy Res 2020 Nov;167:106450. Epub 2020 Sep 1 doi: 10.1016/j.eplepsyres.2020.106450. PMID: 32949980
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461
Baulac S, Gourfinkel-An I, Nabbout R, Huberfeld G, Serratosa J, Leguern E, Baulac M
Lancet Neurol 2004 Jul;3(7):421-30. doi: 10.1016/S1474-4422(04)00808-7. PMID: 15207799

Recent systematic reviews

Kerezoudis P, Tsayem IN, Lundstrom BN, Van Gompel JJ
Seizure 2022 Nov;102:113-119. Epub 2022 Oct 4 doi: 10.1016/j.seizure.2022.10.003. PMID: 36219914

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