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Epilepsy, idiopathic generalized, susceptibility to, 15(EIG15)

MedGen UID:
1675524
Concept ID:
C5193050
Finding
Synonym: EIG15
 
Gene (location): RORB (9q21.13)
 
Monarch Initiative: MONDO:0032699
OMIM®: 618357

Definition

Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade. Absence seizures are the most common manifestation, but most patients also develop other types, including clonic or generalized tonic-clonic seizures. EEG tends to show 3-Hz spike-wave discharges, whereas brain imaging is normal. The majority of patients also have developmental delay associated with impaired intellectual development apparent from infancy or early childhood (summary by Rudolf et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669). [from OMIM]

Clinical features

From HPO
Aggressive behavior
MedGen UID:
1375
Concept ID:
C0001807
Individual Behavior
Behavior or an act aimed at harming a person, animal, or physical property (e.g., acts of physical violence; shouting, swearing, and using harsh language; slashing someone's tires).
Atypical behavior
MedGen UID:
14048
Concept ID:
C0004941
Sign or Symptom
Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.
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.
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.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
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.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Eyelid myoclonus
MedGen UID:
148288
Concept ID:
C0751349
Disease or Syndrome
Marked, involuntary jerking of the eyelids.
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.
Cutaneous photosensitivity
MedGen UID:
87601
Concept ID:
C0349506
Pathologic Function
An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpilepsy, idiopathic generalized, susceptibility to, 15

Recent clinical studies

Etiology

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313Free PMC Article
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
Berrin T, Hikmet Y, Gülşen V, Ferda B, Erdal B, Ece O
Afr Health Sci 2015 Dec;15(4):1204-10. doi: 10.4314/ahs.v15i4.20. PMID: 26958022Free PMC Article
Kirov A, Dimova P, Todorova A, Mefford H, Todorov T, Saraylieva G, Bojinova V, Mitev V, Helbig I
Epilepsy Res 2013 May;104(3):241-5. Epub 2013 Jan 23 doi: 10.1016/j.eplepsyres.2012.10.013. PMID: 23352738
Helbig I, Hodge SE, Ottman R
Eur J Hum Genet 2013 Apr;21(4):444-50. Epub 2012 Sep 26 doi: 10.1038/ejhg.2012.194. PMID: 23010752Free PMC Article

Diagnosis

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313Free PMC Article
Berrin T, Hikmet Y, Gülşen V, Ferda B, Erdal B, Ece O
Afr Health Sci 2015 Dec;15(4):1204-10. doi: 10.4314/ahs.v15i4.20. PMID: 26958022Free PMC Article

Therapy

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

Prognosis

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

Clinical prediction guides

Heyne HO, Pajuste FD, Wanner J, Daniel Onwuchekwa JI, Mägi R, Palotie A; FinnGen; Estonian Biobank research team, Kälviainen R, Daly MJ
Nat Commun 2024 Jul 25;15(1):6277. doi: 10.1038/s41467-024-50295-z. PMID: 39054313Free PMC Article

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