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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.
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 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.
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.
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.
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.

Professional guidelines

PubMed

Ho YY, Ionita-Laza I, Ottman R
Neurology 2012 Feb 21;78(8):563-8. Epub 2012 Feb 8 doi: 10.1212/WNL.0b013e318247ccbf. PMID: 22323750Free PMC Article
Massa R, de Saint-Martin A, Carcangiu R, Rudolf G, Seegmuller C, Kleitz C, Metz-Lutz MN, Hirsch E, Marescaux C
Neurology 2001 Sep 25;57(6):1071-9. doi: 10.1212/wnl.57.6.1071. PMID: 11571336

Recent clinical studies

Etiology

Videira G, Gabriel D, Freitas J, Samões R, Chorão R, Lopes J, Ramalheira J, Lemos C, Leal B, da Silva AM, Chaves J
Seizure 2021 Oct;91:167-171. Epub 2021 Jun 16 doi: 10.1016/j.seizure.2021.06.014. PMID: 34171625
Fanciulli M, Di Bonaventura C, Egeo G, Fattouch J, Dazzo E, Radovic S, Spadotto A, Giallonardo AT, Nobile C
Epilepsy Res 2014 Feb;108(2):232-40. Epub 2013 Nov 18 doi: 10.1016/j.eplepsyres.2013.11.002. PMID: 24315020
Hwang SK, Hirose S
Brain Dev 2012 Sep;34(8):609-16. Epub 2011 Nov 21 doi: 10.1016/j.braindev.2011.10.008. PMID: 22105092
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
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

Diagnosis

Perucca P, Crompton DE, Bellows ST, McIntosh AM, Kalincik T, Newton MR, Vajda FJE, Scheffer IE, Kwan P, O'Brien TJ, Tan KM, Berkovic SF
Ann Neurol 2017 Aug;82(2):166-176. Epub 2017 Jul 19 doi: 10.1002/ana.24984. PMID: 28681459
Fanciulli M, Di Bonaventura C, Egeo G, Fattouch J, Dazzo E, Radovic S, Spadotto A, Giallonardo AT, Nobile C
Epilepsy Res 2014 Feb;108(2):232-40. Epub 2013 Nov 18 doi: 10.1016/j.eplepsyres.2013.11.002. PMID: 24315020
Sturm JW, Fedi M, Berkovic SF, Reutens DC
Neurology 2002 Oct 22;59(8):1246-8. doi: 10.1212/wnl.59.8.1246. PMID: 12391356
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
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Therapy

Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
Sturm JW, Fedi M, Berkovic SF, Reutens DC
Neurology 2002 Oct 22;59(8):1246-8. doi: 10.1212/wnl.59.8.1246. PMID: 12391356
Gelisse P, Genton P, Raybaud C, Thiry A, Pincemaille O
Epilepsia 1999 Sep;40(9):1312-5. doi: 10.1111/j.1528-1157.1999.tb00864.x. PMID: 10487198
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
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

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
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
Barba R, Castro MD, del Mar Morín M, Rodriguez-Romero R, Rodríguez-García E, Cantón R, Del Ser T
Cerebrovasc Dis 2001;11(3):216-24. doi: 10.1159/000047642. PMID: 11306771
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
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

Zhang S, Li J, Zhou D
Sci Rep 2023 Oct 8;13(1):16962. doi: 10.1038/s41598-023-43705-7. PMID: 37806981Free PMC Article
Pohlentz MS, Müller P, Cases-Cunillera S, Opitz T, Surges R, Hamed M, Vatter H, Schoch S, Becker AJ, Pitsch J
PLoS One 2022;17(8):e0271995. Epub 2022 Aug 16 doi: 10.1371/journal.pone.0271995. PMID: 35972937Free PMC Article
Videira G, Gabriel D, Freitas J, Samões R, Chorão R, Lopes J, Ramalheira J, Lemos C, Leal B, da Silva AM, Chaves J
Seizure 2021 Oct;91:167-171. Epub 2021 Jun 16 doi: 10.1016/j.seizure.2021.06.014. PMID: 34171625
Fanciulli M, Di Bonaventura C, Egeo G, Fattouch J, Dazzo E, Radovic S, Spadotto A, Giallonardo AT, Nobile C
Epilepsy Res 2014 Feb;108(2):232-40. Epub 2013 Nov 18 doi: 10.1016/j.eplepsyres.2013.11.002. PMID: 24315020
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669

Recent systematic reviews

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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