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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.
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
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.
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.
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.
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).

Recent clinical studies

Etiology

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article

Diagnosis

Ishida S, Picard F, Rudolf G, Noé E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S
Nat Genet 2013 May;45(5):552-5. Epub 2013 Mar 31 doi: 10.1038/ng.2601. PMID: 23542701Free PMC Article
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
Wang X, Lu Y
Front Biosci 2008 Jan 1;13:3159-67. doi: 10.2741/2917. PMID: 17981785
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
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

Prognosis

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

Clinical prediction guides

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
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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