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Familial temporal lobe epilepsy 8(ETL8)

MedGen UID:
909158
•Concept ID:
C4225318
•
Disease or Syndrome
Synonyms: EPILEPSY, FAMILIAL TEMPORAL LOBE, 8; ETL8
 
Gene (location): GAL (11q13.2)
 
Monarch Initiative: MONDO:0014650
OMIM®: 616461

Definition

A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has material basis in heterozygous mutation in the GAL gene on chromosome 11q13. [from MONDO]

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.
See: Search on this feature
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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Focal aware cognitive seizure with forced thinking
MedGen UID:
1710223
•Concept ID:
C5397715
•
Disease or Syndrome
A focal cognitive seizure with forced thinking characterized by retained awareness throughout the seizure.
See: Feature record | Search on this feature
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena
MedGen UID:
1712433
•Concept ID:
C5397795
•
Disease or Syndrome
A focal autonomic seizure with epigastric sensation / nausea / vomiting / other gastrointestinal phenomena characterized by retained awareness throughout the seizure.
See: Feature record | Search on this feature
Focal aware sensory seizure with auditory features
MedGen UID:
1712570
•Concept ID:
C5397869
•
Disease or Syndrome
A type of focal sensory seizure with auditory features during which awareness is retained throughout the seizure.
See: Feature record | Search on this feature

Recent clinical studies

Etiology

Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

Diagnosis

Familial lateral temporal lobe epilepsy confirmed with intracranial electroencephalography and successfully treated by surgery.
Koizumi S, Kawai K, Asano S, Ueki K, Suzuki I, Saito N
Neurol Med Chir (Tokyo) 2011;51(8):604-10. doi: 10.2176/nmc.51.604. PMID: 21869587
Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.
Crompton DE, Scheffer IE, Taylor I, Cook MJ, McKelvie PA, Vears DF, Lawrence KM, McMahon JM, Grinton BE, McIntosh AM, Berkovic SF
Brain 2010 Nov;133(11):3221-31. Epub 2010 Sep 23 doi: 10.1093/brain/awq251. PMID: 20864493
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362
Familial temporal lobe epilepsy autosomal dominant inheritance in a large pedigree from southern Italy.
Gambardella A, Messina D, Le Piane E, Oliveri RL, Annesi G, Zappia M, Andermann E, Quattrone A, Aguglia U
Epilepsy Res 2000 Feb;38(2-3):127-32. doi: 10.1016/s0920-1211(99)00080-7. PMID: 10642040

Therapy

Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937

Prognosis

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.
Crompton DE, Scheffer IE, Taylor I, Cook MJ, McKelvie PA, Vears DF, Lawrence KM, McMahon JM, Grinton BE, McIntosh AM, Berkovic SF
Brain 2010 Nov;133(11):3221-31. Epub 2010 Sep 23 doi: 10.1093/brain/awq251. PMID: 20864493
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
Al-Asmi A, Jansen AC, Badhwar A, Dubeau F, Tampieri D, Shustik C, Mercho S, Savard G, Dobson-Stone C, Monaco AP, Andermann F, Andermann E
Epilepsia 2005 Aug;46(8):1256-63. doi: 10.1111/j.1528-1167.2005.65804.x. PMID: 16060937

Clinical prediction guides

Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance.
Crompton DE, Scheffer IE, Taylor I, Cook MJ, McKelvie PA, Vears DF, Lawrence KM, McMahon JM, Grinton BE, McIntosh AM, Berkovic SF
Brain 2010 Nov;133(11):3221-31. Epub 2010 Sep 23 doi: 10.1093/brain/awq251. PMID: 20864493
Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families.
Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E
Brain 2000 Jun;123 ( Pt 6):1247-62. doi: 10.1093/brain/123.6.1247. PMID: 10825362

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed (OMIM)
      Related literature resources in PubMed

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