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Familial temporal lobe epilepsy 2(ETL2)

MedGen UID:
1683026
•Concept ID:
C4759869
•
Disease or Syndrome
Synonym: ETL2
 
Monarch Initiative: MONDO:0011965
OMIM®: 608096
Orphanet: ORPHA98819

Definition

Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996). For a discussion of genetic heterogeneity of temporal lobe epilepsy, see ETL1 (600512). [from OMIM]

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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Focal aware seizure
MedGen UID:
65895
•Concept ID:
C0234974
•
Disease or Syndrome
A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.
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Focal impaired awareness seizure
MedGen UID:
543022
•Concept ID:
C0270834
•
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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Bilateral tonic-clonic seizure
MedGen UID:
141670
•Concept ID:
C0494475
•
Sign or Symptom
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.
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Febrile status epilepticus
MedGen UID:
1709275
•Concept ID:
C5397673
•
Disease or Syndrome
A seizure lasting 30 minutes without fully regaining consciousness, provoked by fever (temperature greater than 38.0 degrees Celcius) at the time of seizure-onset, without a prior history of afebrile seizure and with no evidence of an acute central nervous system infection or insult.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial temporal lobe epilepsy 2

Professional guidelines

PubMed

Seizure outcome following medical treatment of mesial temporal lobe epilepsy: Clinical phenotypes and prognostic factors.
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
Chemical corrector treatment ameliorates increased seizure susceptibility in a mouse model of familial epilepsy.
Yokoi N, Fukata Y, Kase D, Miyazaki T, Jaegle M, Ohkawa T, Takahashi N, Iwanari H, Mochizuki Y, Hamakubo T, Imoto K, Meijer D, Watanabe M, Fukata M
Nat Med 2015 Jan;21(1):19-26. Epub 2014 Dec 8 doi: 10.1038/nm.3759. PMID: 25485908
Drug treatment of epilepsy: when does it fail and how to optimize its use?
Kwan P, Brodie MJ
CNS Spectr 2004 Feb;9(2):110-9. doi: 10.1017/s1092852900008476. PMID: 14999167

Recent clinical studies

Etiology

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
Clinical characteristics of MRI-negative temporal lobe epilepsy.
Asadi-Pooya AA, Farazdaghi M
Acta Neurol Belg 2023 Oct;123(5):1911-1916. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02145-2. PMID: 36385248
Gene expression profile suggests different mechanisms underlying sporadic and familial mesial temporal lobe epilepsy.
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
Prenatal development of the human entorhinal cortex.
Šimić G, Krsnik Ž, Knezović V, Kelović Z, Mathiasen ML, Junaković A, Radoš M, Mulc D, Španić E, Quattrocolo G, Hall VJ, Zaborszky L, Vukšić M, Olucha Bordonau F, Kostović I, Witter MP, Hof PR
J Comp Neurol 2022 Oct;530(15):2711-2748. Epub 2022 May 23 doi: 10.1002/cne.25344. PMID: 35603771
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Diagnosis

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
Postictal language function.
Privitera M, Kim KK
Epilepsy Behav 2010 Oct;19(2):140-5. Epub 2010 Aug 8 doi: 10.1016/j.yebeh.2010.06.028. PMID: 20696620
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Progressive supranuclear palsy.
Duvoisin RC, Golbe LI, Lepore FE
Can J Neurol Sci 1987 Aug;14(3 Suppl):547-54. PMID: 3315157
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Therapy

Shared hippocampal abnormalities in sporadic temporal lobe epilepsy patients and their siblings.
Long L, Galovic M, Chen Y, Postma T, Vos SB, Xiao F, Wu W, Song Y, Huang S, Koepp M, Xiao B
Epilepsia 2020 Apr;61(4):735-746. Epub 2020 Mar 20 doi: 10.1111/epi.16477. PMID: 32196657
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Nocturnal temporal lobe epilepsy.
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
Epilepsy.
Fraser RT
Annu Rev Rehabil 1981;2:147-72. PMID: 6821139
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

Predicting mood decline following temporal lobe epilepsy surgery in adults.
Doherty C, Nowacki AS, Pat McAndrews M, McDonald CR, Reyes A, Kim MS, Hamberger M, Najm I, Bingaman W, Jehi L, Busch RM
Epilepsia 2021 Feb;62(2):450-459. Epub 2021 Jan 19 doi: 10.1111/epi.16800. PMID: 33464568Free PMC Article
Epilepsies associated with hippocampal sclerosis.
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Neurosteroids and epilepsy.
Biagini G, Panuccio G, Avoli M
Curr Opin Neurol 2010 Apr;23(2):170-6. doi: 10.1097/WCO.0b013e32833735cf. PMID: 20160650Free PMC Article
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
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
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
The MicroRNA Expression Profiles of Human Temporal Lobe Epilepsy in HS ILAE Type 1.
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
Epilepsies associated with hippocampal sclerosis.
Cendes F, Sakamoto AC, Spreafico R, Bingaman W, Becker AJ
Acta Neuropathol 2014 Jul;128(1):21-37. Epub 2014 May 14 doi: 10.1007/s00401-014-1292-0. PMID: 24823761
Progressive supranuclear palsy.
Duvoisin RC, Golbe LI, Lepore FE
Can J Neurol Sci 1987 Aug;14(3 Suppl):547-54. PMID: 3315157

Recent systematic reviews

Systematic review and patient-level meta-analysis of radiofrequency ablation for medically refractory epilepsy: Implications for clinical practice and research.
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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