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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.
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.
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.
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.
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.

Term Hierarchy

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

Recent clinical studies

Etiology

Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
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
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

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
Kinoshita M, Takahashi R, Ikeda A
Epileptic Disord 2008 Sep;10(3):206-12. doi: 10.1684/epd.2008.0203. PMID: 18782689
Wang X, Lu Y
Front Biosci 2008 Jan 1;13:3159-67. doi: 10.2741/2917. PMID: 17981785
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
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

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

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

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
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
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
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

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