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Epilepsy, idiopathic generalized, susceptibility to, 12(EIG12)

MedGen UID:
766773
Concept ID:
C3553859
Finding
Synonym: EIG12
 
Gene (location): SLC2A1 (1p34.2)
 
Monarch Initiative: MONDO:0013919
OMIM®: 614847

Clinical features

From HPO
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.
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.

Recent clinical studies

Etiology

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
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

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

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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