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Familial temporal lobe epilepsy 3(FMTLE; ETL3)

MedGen UID:: 368898
•Concept ID:: C1968848
•: Disease or Syndrome

Synonym:	Epilepsy, Familial Mesial Temporal Lobe

Monarch Initiative:	MONDO:0012705
OMIM®:	611630

Clinical features

From HPO

Deja vu aura

MedGen UID:: 41442
•Concept ID:: C0011194
•: Mental Process

A subjective feeling that an experience which is occurring for the first time has been experienced before.

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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 with focal onset

MedGen UID:: 164077
•Concept ID:: C0877017
•: Disease or Syndrome

A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.

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Abnormality of the nervous system

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

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Diagnosis

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

Familial temporal lobe epilepsy with aphasic seizures and linkage to chromosome 10q22-q24.

Brodtkorb E, Gu W, Nakken KO, Fischer C, Steinlein OK
Epilepsia 2002 Mar;43(3):228-35. doi: 10.1046/j.1528-1157.2002.32001.x. PMID: 11906506

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

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Clinical prediction guides

A new locus for familial temporal lobe epilepsy on chromosome 3q.

Chahine L, Abou-Khalil B, Siren A, Andermann F, Hedera P, Ge Q, Andermann E, Pandolfo M
Epilepsy Res 2013 Oct;106(3):338-44. Epub 2013 Aug 14 doi: 10.1016/j.eplepsyres.2013.07.007. PMID: 24021842

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

Partial epilepsy syndrome in a Gypsy family linked to 5q31.3-q32.

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

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Familial temporal lobe epilepsy 3(FMTLE; ETL3)

Clinical features

Recent clinical studies

Etiology

Diagnosis

Clinical prediction guides

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Table of contents

Clinical resources

Molecular resources

Consumer resources

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