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Familial temporal lobe epilepsy 5(ETL5)

MedGen UID:
482360
•Concept ID:
C3280730
•
Disease or Syndrome
Synonyms: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5; ETL5
 
Gene (location): CPA6 (8q13.2)
 
Monarch Initiative: MONDO:0013741
OMIM®: 614417

Definition

A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13. [from MONDO]

Clinical features

From HPO
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.
See: Feature record | 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
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.
See: Feature record | Search on this feature
Visually-induced seizure
MedGen UID:
1720648
•Concept ID:
C2080645
•
Disease or Syndrome
Seizures evoked by visual stimuli. This includes clinical seizures induced by strobe lighting, television and other screens, flickering environmental lighting and self-induction by causing a strobe effect.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
EEG with spike-wave complexes
MedGen UID:
869259
•Concept ID:
C4023683
•
Finding
Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).
See: Feature record | Search on this feature

Professional guidelines

PubMed

Is the peroxisome proliferator-activated receptor gamma a putative target for epilepsy treatment? Current evidence and future perspectives.
Senn L, Costa AM, Avallone R, Socała K, Wlaź P, Biagini G
Pharmacol Ther 2023 Jan;241:108316. Epub 2022 Nov 24 doi: 10.1016/j.pharmthera.2022.108316. PMID: 36436690
Evaluation of long-term antiepileptic drug use in patients with temporal lobe epilepsy: Assessment of risk factors for drug resistance and polypharmacy.
Bjørke AB, Nome CG, Falk RS, Gjerstad L, Taubøll E, Heuser K
Seizure 2018 Oct;61:63-70. Epub 2018 Jul 17 doi: 10.1016/j.seizure.2018.07.011. PMID: 30099235
MicroRNAs in epilepsy: pathophysiology and clinical utility.
Henshall DC, Hamer HM, Pasterkamp RJ, Goldstein DB, Kjems J, Prehn JHM, Schorge S, Lamottke K, Rosenow F
Lancet Neurol 2016 Dec;15(13):1368-1376. doi: 10.1016/S1474-4422(16)30246-0. PMID: 27839653

Recent clinical studies

Etiology

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
Clinical characteristics of MRI-negative temporal lobe epilepsy.
Asadi-Pooya AA, Farazdaghi M
Acta Neurol Belg 2023 Oct;123(5):1911-1916. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02145-2. PMID: 36385248
MicroRNAs in epilepsy: pathophysiology and clinical utility.
Henshall DC, Hamer HM, Pasterkamp RJ, Goldstein DB, Kjems J, Prehn JHM, Schorge S, Lamottke K, Rosenow F
Lancet Neurol 2016 Dec;15(13):1368-1376. doi: 10.1016/S1474-4422(16)30246-0. PMID: 27839653
Febrile convulsion--an overview.
Mukherjee A, Mukherjee A
J Indian Med Assoc 2002 May;100(5):317-9, 326. PMID: 12418634
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Diagnosis

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
Clinical characteristics of MRI-negative temporal lobe epilepsy.
Asadi-Pooya AA, Farazdaghi M
Acta Neurol Belg 2023 Oct;123(5):1911-1916. Epub 2022 Nov 17 doi: 10.1007/s13760-022-02145-2. PMID: 36385248
Behavioral phenotypes of pediatric temporal lobe epilepsy.
Schraegle WA, Tillman R, Ailion A, Babajani-Feremi A, Titus JB, DeLeon RC, Clarke D, Hermann BP
Epilepsia 2022 May;63(5):1177-1188. Epub 2022 Feb 17 doi: 10.1111/epi.17193. PMID: 35174484
Postictal language function.
Privitera M, Kim KK
Epilepsy Behav 2010 Oct;19(2):140-5. Epub 2010 Aug 8 doi: 10.1016/j.yebeh.2010.06.028. PMID: 20696620
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Therapy

Is the peroxisome proliferator-activated receptor gamma a putative target for epilepsy treatment? Current evidence and future perspectives.
Senn L, Costa AM, Avallone R, Socała K, Wlaź P, Biagini G
Pharmacol Ther 2023 Jan;241:108316. Epub 2022 Nov 24 doi: 10.1016/j.pharmthera.2022.108316. PMID: 36436690
Depressive disorders in patients with pharmaco-resistant mesial temporal lobe epilepsy.
Gonçalves EB, de Oliveira Cardoso TAM, Yasuda CL, Cendes F
J Int Med Res 2018 Feb;46(2):752-760. Epub 2017 Sep 27 doi: 10.1177/0300060517717825. PMID: 29239239Free PMC Article
Febrile convulsion--an overview.
Mukherjee A, Mukherjee A
J Indian Med Assoc 2002 May;100(5):317-9, 326. PMID: 12418634
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Epilepsy.
Gilligan B
Aust Fam Physician 1976 Aug;5(7):910-20, 926, 929-30. PMID: 11767

Prognosis

Relation Between ILAE Hippocampal Sclerosis Classification and Clinical Findings in Temporal Lobe Epilepsy.
Hasimoglu O, Barut O, Kapar MO, Hergunsel OB, Kinay D, Gul G, Dirican AC, Bilgic B, Tugcu B
Turk Neurosurg 2021;31(3):404-411. doi: 10.5137/1019-5149.JTN.32026-20.1. PMID: 33759167
The MicroRNA Expression Profiles of Human Temporal Lobe Epilepsy in HS ILAE Type 1.
Tang C, Wang H, Wu H, Yan S, Han Z, Jiang Z, Na M, Guo M, Lu D, Lin Z
Cell Mol Neurobiol 2019 Apr;39(3):461-470. Epub 2019 Feb 21 doi: 10.1007/s10571-019-00662-y. PMID: 30790096Free PMC Article
Prodynorphin gene promoter polymorphism and temporal lobe epilepsy: A meta-analysis.
Zhang N, Ouyang TH, Zhou Q, Kang HC, Zhu SQ
J Huazhong Univ Sci Technolog Med Sci 2015 Oct;35(5):635-639. Epub 2015 Oct 22 doi: 10.1007/s11596-015-1482-6. PMID: 26489614
DEPDC5 mutations are not a frequent cause of familial temporal lobe epilepsy.
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
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Clinical prediction guides

Bilateral temporal lobe dysplasia and seizure onset associated with biallelic CNTNAP2 variants.
Panza N, Bianchini C, Cetica V, Balestrini S, Barba C, Ferrari AR, Mei D, Parmeggiani L, Parrini E, Guerrini R
Epilepsia Open 2024 Feb;9(1):417-423. Epub 2023 Dec 15 doi: 10.1002/epi4.12843. PMID: 37805811Free PMC Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255Free PMC Article
Religiosity and spirituality in patients with epilepsy.
Rigon IB, Calado GA, Linhares LS, Cantu PLM, Moritz JLW, Wolf P, Lin K
Arq Neuropsiquiatr 2019 May 1;77(5):335-340. doi: 10.1590/0004-282X20190055. PMID: 31188997
The MicroRNA Expression Profiles of Human Temporal Lobe Epilepsy in HS ILAE Type 1.
Tang C, Wang H, Wu H, Yan S, Han Z, Jiang Z, Na M, Guo M, Lu D, Lin Z
Cell Mol Neurobiol 2019 Apr;39(3):461-470. Epub 2019 Feb 21 doi: 10.1007/s10571-019-00662-y. PMID: 30790096Free PMC Article
Temporal lobectomy: a promising alternative.
Rusy KL
J Neurosci Nurs 1991 Oct;23(5):320-4. doi: 10.1097/01376517-199110000-00009. PMID: 1835997

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