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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.
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Term Hierarchy

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

Recent clinical studies

Etiology

Application of the 2001 diagnostic scheme and the 2006 ILAE report of seizure and epilepsy: a feedback from the clinical practice of adult epilepsy.
Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
Clinical and genetic heterogeneity in familial temporal lobe epilepsy.
Santos NF, Sousa SC, Kobayashi E, Torres FR, Sardinha JA, Cendes F, Lopes-Cendes I
Epilepsia 2002;43 Suppl 5:136. doi: 10.1046/j.1528-1157.43.s.5.23.x. PMID: 12121308
Familial temporal lobe epilepsy: a clinically heterogeneous syndrome.
Cendes F, Lopes-Cendes I, Andermann E, Andermann F
Neurology 1998 Feb;50(2):554-7. doi: 10.1212/wnl.50.2.554. PMID: 9484399

Diagnosis

The clinical characters and gene detection in a familial temporal lobe epilepsy with auditory aura.
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
Application of the 2001 diagnostic scheme and the 2006 ILAE report of seizure and epilepsy: a feedback from the clinical practice of adult epilepsy.
Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
Genetic etiology of new forms of familial epilepsy.
Wang X, Lu Y
Front Biosci 2008 Jan 1;13:3159-67. doi: 10.2741/2917. PMID: 17981785
Autosomal dominant temporal lobe epilepsy in a Japanese family.
Ikeda A, Kunieda T, Miyamoto S, Fukuyama H, Shibasaki H
J Neurol Sci 2000 Jun 15;176(2):162-5. doi: 10.1016/s0022-510x(00)00333-6. PMID: 10930602
Familial temporal lobe epilepsy: a common disorder identified in twins.
Berkovic SF, McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL
Ann Neurol 1996 Aug;40(2):227-35. doi: 10.1002/ana.410400214. PMID: 8773604

Therapy

Familial temporal lobe epilepsy: a clinically heterogeneous syndrome.
Cendes F, Lopes-Cendes I, Andermann E, Andermann F
Neurology 1998 Feb;50(2):554-7. doi: 10.1212/wnl.50.2.554. PMID: 9484399

Prognosis

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C
Epilepsia 2015 Oct;56(10):e168-71. Epub 2015 Jul 27 doi: 10.1111/epi.13094. PMID: 26216793

Clinical prediction guides

DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
Striano P, Serioli E, Santulli L, Manna I, Labate A, Dazzo E, Pasini E, Gambardella A, Michelucci R, Striano S, Nobile C
Epilepsia 2015 Oct;56(10):e168-71. Epub 2015 Jul 27 doi: 10.1111/epi.13094. PMID: 26216793
Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3.
Azmanov DN, Zhelyazkova S, Radionova M, Morar B, Angelicheva D, Zlatareva D, Kaneva R, Tournev I, Kalaydjieva L, Sander JW
Epilepsy Res 2011 Sep;96(1-2):101-8. Epub 2011 Jun 8 doi: 10.1016/j.eplepsyres.2011.05.006. PMID: 21645995
Magnetic resonance imaging abnormalities in familial temporal lobe epilepsy with auditory auras.
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
Clinical and genetic heterogeneity in familial temporal lobe epilepsy.
Santos NF, Sousa SC, Kobayashi E, Torres FR, Sardinha JA, Cendes F, Lopes-Cendes I
Epilepsia 2002;43 Suppl 5:136. doi: 10.1046/j.1528-1157.43.s.5.23.x. PMID: 12121308

Supplemental Content

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    • ClinVar
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    • OMIM
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