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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

Professional guidelines

PubMed

Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.
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
EEG criteria predictive of complicated evolution in idiopathic rolandic epilepsy.
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

Female preponderance in genetic generalized epilepsies.
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
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.
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
Genetics of temporal lobe epilepsy.
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
Temporal lobe resections.
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
Nocturnal temporal lobe epilepsy.
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

Familial mesial temporal lobe epilepsy and the borderland of déjà vu.
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
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.
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
Exercise-induced temporal lobe epilepsy.
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
Nocturnal temporal lobe epilepsy.
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
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Therapy

Temporal lobe resections.
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
Exercise-induced temporal lobe epilepsy.
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
Benign childhood epilepsy with centrotemporal spikes and hippocampal atrophy.
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
Nocturnal temporal lobe epilepsy.
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
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

Familial mesial temporal lobe epilepsy (FMTLE) : a clinical and genetic study of 15 Italian families.
Striano P, Gambardella A, Coppola A, Di Bonaventura C, Bovo G, Diani E, Boaretto F, Egeo G, Ciampa C, Labate A, Testoni S, Passarelli D, Manna I, Sferro C, Aguglia U, Caranci F, Giallonardo AT, Striano S, Nobile C, Michelucci R
J Neurol 2008 Jan;255(1):16-23. Epub 2007 Nov 21 doi: 10.1007/s00415-007-0653-1. PMID: 18004642
Temporal lobe resections.
Harkness W
Childs Nerv Syst 2006 Aug;22(8):936-44. Epub 2006 Jul 11 doi: 10.1007/s00381-006-0140-5. PMID: 16832669
Prestroke dementia.
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
Nocturnal temporal lobe epilepsy.
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
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

A comparison of comorbid headache between patients with temporal lobe epilepsy and juvenile myoclonic epilepsy.
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
Characterisation of NLRP3 pathway-related neuroinflammation in temporal lobe epilepsy.
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
Female preponderance in genetic generalized epilepsies.
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
Suggestive linkage of familial mesial temporal lobe epilepsy to chromosome 3q26.
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
Temporal lobe resections.
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

Systematic review and patient-level meta-analysis of radiofrequency ablation for medically refractory epilepsy: Implications for clinical practice and research.
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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