Epilepsy, idiopathic generalized, susceptibility to, 3(EIG3)

MedGen UID:: 373335
•Concept ID:: C1837468
•: Finding

Synonyms:	EIG3; Epilepsy, idiopathic generalized 3; EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, LOCUS ON CHROMOSOME 9

Monarch Initiative:	MONDO:0012113
OMIM®:	608762

Clinical features

From HPO

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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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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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.

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Abnormality of the integument
- Cutaneous photosensitivity
Abnormality of the nervous system
- Bilateral tonic-clonic seizure
- Seizure

Recent clinical studies

Etiology

Association of rs211037 GABRG2 gene polymorphism with susceptibility to idiopathic generalized epilepsy.

Milanovska M, Cvetkovska E, Panov S
Med Glas (Zenica) 2021 Aug 1;18(2):404-409. doi: 10.17392/1367-21. PMID: 34080406

The clinical spectrum of familial and sporadic idiopathic generalized epilepsy.

Gesche J, Hjalgrim H, Rubboli G, Beier CP
Epilepsy Res 2020 Sep;165:106374. Epub 2020 Jun 1 doi: 10.1016/j.eplepsyres.2020.106374. PMID: 32554302

15q13.3 microdeletions in a prospectively recruited cohort of patients with idiopathic generalized epilepsy in Bulgaria.

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

Familial cosegregation of rare genetic variants with disease in complex disorders.

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: 23010752 Free 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

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