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Epilepsy, idiopathic generalized, susceptibility to, 7(EIG7)

MedGen UID:
442800
•Concept ID:
C2751729
•
Finding
Synonyms: EIG7; EJM2-Related Juvenile Myoclonic Epilepsy; Epilepsy, idiopathic generalized 7
 
Monarch Initiative: MONDO:0011491
OMIM®: 604827

Clinical features

From HPO
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.
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

Recent clinical studies

Etiology

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
Attention deficits in children with epilepsy: Preliminary findings.
Gascoigne MB, Smith ML, Barton B, Webster R, Gill D, Lah S
Epilepsy Behav 2017 Feb;67:7-12. Epub 2017 Jan 10 doi: 10.1016/j.yebeh.2016.11.013. PMID: 28086190
Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.
Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP
DNA Cell Biol 2013 Nov;32(11):640-7. Epub 2013 Sep 11 doi: 10.1089/dna.2012.1880. PMID: 24024466Free 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

Diagnosis

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

Therapy

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

Prognosis

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

Clinical prediction guides

Association study of the 2-bp deletion polymorphism in exon 6 of the CHRFAM7A gene with idiopathic generalized epilepsy.
Rozycka A, Dorszewska J, Steinborn B, Lianeri M, Winczewska-Wiktor A, Sniezawska A, Wisniewska K, Jagodzinski PP
DNA Cell Biol 2013 Nov;32(11):640-7. Epub 2013 Sep 11 doi: 10.1089/dna.2012.1880. PMID: 24024466Free PMC Article

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