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Epilepsy, idiopathic generalized, susceptibility to, 8(EIG8)

MedGen UID:
414549
•Concept ID:
C2752062
•
Finding
Synonym: Epilepsy, idiopathic generalized 8
 
Gene (location): CASR (3q13.33-21.1)
 
Monarch Initiative: MONDO:0013032
OMIM®: 612899

Definition

Any generalized epilepsy in which the cause of the disease is a mutation in the CASR gene. [from MONDO]

Clinical features

From HPO
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
•Concept ID:
C0009952
•
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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Myoclonus
MedGen UID:
10234
•Concept ID:
C0027066
•
Finding
Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.
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Seizure
MedGen UID:
20693
•Concept ID:
C0036572
•
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
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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.
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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.
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Generalized non-motor (absence) seizure
MedGen UID:
1385688
•Concept ID:
C4316903
•
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
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Professional guidelines

PubMed

Haptoglobin HP2-2 genotype, alpha-thalassaemia and acute seizures in children living in a malaria-endemic area.
Idro R, Williams TN, Gwer S, Uyoga S, Macharia A, Opi H, Atkinson S, Maitland K, Kager PA, Kwiatkowski D, Neville BG, Newton CR
Epilepsy Res 2008 Oct;81(2-3):114-8. Epub 2008 Jun 12 doi: 10.1016/j.eplepsyres.2008.04.021. PMID: 18554871Free PMC Article

Recent clinical studies

Etiology

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Helbig I, Mefford HC, Sharp AJ, Guipponi M, Fichera M, Franke A, Muhle H, de Kovel C, Baker C, von Spiczak S, Kron KL, Steinich I, Kleefuss-Lie AA, Leu C, Gaus V, Schmitz B, Klein KM, Reif PS, Rosenow F, Weber Y, Lerche H, Zimprich F, Urak L, Fuchs K, Feucht M, Genton P, Thomas P, Visscher F, de Haan GJ, Møller RS, Hjalgrim H, Luciano D, Wittig M, Nothnagel M, Elger CE, Nürnberg P, Romano C, Malafosse A, Koeleman BP, Lindhout D, Stephani U, Schreiber S, Eichler EE, Sander T
Nat Genet 2009 Feb;41(2):160-2. Epub 2009 Jan 11 doi: 10.1038/ng.292. PMID: 19136953Free PMC Article
Video game induced seizures.
Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP
J Neurol Neurosurg Psychiatry 1994 Aug;57(8):925-31. doi: 10.1136/jnnp.57.8.925. PMID: 8057115Free PMC Article

Diagnosis

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Epilepsy and tobacco smoking: a cross-sectional study.
Torriani O, Vuilleumier F, Perneger T, Despland PA, Maeder M, Héritier-Barras AC, Vulliemoz S, Seeck M, Rossetti AO, Picard F
J Neurol 2016 Oct;263(10):2057-64. Epub 2016 Jul 14 doi: 10.1007/s00415-016-8228-7. PMID: 27416858
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.
Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmüller J, Thiele H, Toliat MR; EuroEPINOMICS Consortium, Lerche H, Nürnberg P, Sander T, Neubauer BA, Zimprich F
Epilepsia 2014 Aug;55(8):e89-93. Epub 2014 Jul 3 doi: 10.1111/epi.12712. PMID: 24995671
A comparison of adult onset and "classical" idiopathic generalised epilepsy.
Nicolson A, Chadwick DW, Smith DF
J Neurol Neurosurg Psychiatry 2004 Jan;75(1):72-4. PMID: 14707311Free PMC Article
Video game induced seizures.
Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP
J Neurol Neurosurg Psychiatry 1994 Aug;57(8):925-31. doi: 10.1136/jnnp.57.8.925. PMID: 8057115Free PMC Article

Therapy

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
West syndrome followed by juvenile myoclonic epilepsy: a coincidental occurrence?
Mangano S, Nardello R, Tripi G, Giordano G, Spitaleri C, Mangano GR, Fontana A
BMC Neurol 2013 May 24;13:48. doi: 10.1186/1471-2377-13-48. PMID: 23705971Free PMC Article
Clinical and electroencephalographic findings in early and late onset benign childhood epilepsy with occipital paroxysms.
Tsai ML, Lo HY, Chaou WT
Brain Dev 2001 Oct;23(6):401-5. doi: 10.1016/s0387-7604(01)00246-7. PMID: 11578851

Prognosis

Oligoepilepsy and lifelong seizure susceptibility in epilepsy with generalized tonic-clonic seizures alone: Experience at an adult tertiary center.
Peña-Ceballos J, Moloney PB, Kilbride RD, Naggar HE, Widdess-Walsh P, Delanty N
Epilepsy Res 2024 May;202:107362. Epub 2024 Apr 19 doi: 10.1016/j.eplepsyres.2024.107362. PMID: 38652996
ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder.
Oates S, Absoud M, Goyal S, Bayley S, Baulcomb J, Sims A, Riddett A, Allis K, Brasch-Andersen C, Balasubramanian M, Bai R, Callewaert B, Hüffmeier U, Le Duc D, Radtke M, Korff C, Kennedy J, Low K, Møller RS, Nielsen JEK, Popp B, Quteineh L, Rønde G, Schönewolf-Greulich B, Shillington A, Taylor MR, Todd E, Torring PM, Tümer Z, Vasileiou G, Yates TM, Zweier C, Rosch R, Basson MA, Pal DK
Clin Genet 2021 Oct;100(4):412-429. Epub 2021 Jul 16 doi: 10.1111/cge.14023. PMID: 34216016
Familial risk of epilepsy: a population-based study.
Peljto AL, Barker-Cummings C, Vasoli VM, Leibson CL, Hauser WA, Buchhalter JR, Ottman R
Brain 2014 Mar;137(Pt 3):795-805. Epub 2014 Jan 26 doi: 10.1093/brain/awt368. PMID: 24468822Free PMC Article
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
Arsov T, Mullen SA, Rogers S, Phillips AM, Lawrence KM, Damiano JA, Goldberg-Stern H, Afawi Z, Kivity S, Trager C, Petrou S, Berkovic SF, Scheffer IE
Ann Neurol 2012 Nov;72(5):807-15. doi: 10.1002/ana.23702. PMID: 23280796
A comparison of adult onset and "classical" idiopathic generalised epilepsy.
Nicolson A, Chadwick DW, Smith DF
J Neurol Neurosurg Psychiatry 2004 Jan;75(1):72-4. PMID: 14707311Free PMC Article

Clinical prediction guides

Identification of susceptibility variants to benign childhood epilepsy with centro-temporal spikes (BECTS) in Chinese Han population.
Shi XY, Wang G, Li T, Li Z, Leo P, Liu Z, Wu G, Zhu H, Zhang Y, Li D, Gao L, Yang L, Wang W, Liao J, Wang J, Zhou S, Wang H, Li X, Gao J, Zhang L, Shu X, Li D, Li Y, Chen C, Zhang X, Partida GC, Lundberg M, Reutens D, Bartlett P, Brown MA, Zou LP, Xu H
EBioMedicine 2020 Jul;57:102840. Epub 2020 Jun 21 doi: 10.1016/j.ebiom.2020.102840. PMID: 32580138Free PMC Article
Prevalence of idiopathic epilepsy among school children in Gharbia Governorate, Egypt.
Alshahawy AK, Darwish AH, Elsaid Shalaby S, Mawlana W
Brain Dev 2018 Apr;40(4):278-286. Epub 2017 Dec 30 doi: 10.1016/j.braindev.2017.12.009. PMID: 29295801
RBFOX1 and RBFOX3 mutations in rolandic epilepsy.
Lal D, Reinthaler EM, Altmüller J, Toliat MR, Thiele H, Nürnberg P, Lerche H, Hahn A, Møller RS, Muhle H, Sander T, Zimprich F, Neubauer BA
PLoS One 2013;8(9):e73323. Epub 2013 Sep 6 doi: 10.1371/journal.pone.0073323. PMID: 24039908Free PMC Article
Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies.
de Kovel CG, Trucks H, Helbig I, Mefford HC, Baker C, Leu C, Kluck C, Muhle H, von Spiczak S, Ostertag P, Obermeier T, Kleefuss-Lie AA, Hallmann K, Steffens M, Gaus V, Klein KM, Hamer HM, Rosenow F, Brilstra EH, Trenité DK, Swinkels ME, Weber YG, Unterberger I, Zimprich F, Urak L, Feucht M, Fuchs K, Møller RS, Hjalgrim H, De Jonghe P, Suls A, Rückert IM, Wichmann HE, Franke A, Schreiber S, Nürnberg P, Elger CE, Lerche H, Stephani U, Koeleman BP, Lindhout D, Eichler EE, Sander T
Brain 2010 Jan;133(Pt 1):23-32. Epub 2009 Oct 20 doi: 10.1093/brain/awp262. PMID: 19843651Free PMC Article
Mapping of genes predisposing to idiopathic generalized epilepsy.
Zara F, Bianchi A, Avanzini G, Di Donato S, Castellotti B, Patel PI, Pandolfo M
Hum Mol Genet 1995 Jul;4(7):1201-7. doi: 10.1093/hmg/4.7.1201. PMID: 8528209

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