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Epilepsy, idiopathic generalized, susceptibility to, 17(EIG17)

MedGen UID:
1794141
Concept ID:
C5561931
Finding
Synonym: EIG17
 
Gene (location): HCN2 (19p13.3)
 
Monarch Initiative: MONDO:0100519
OMIM®: 602477

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.
Atonic seizure
MedGen UID:
78735
Concept ID:
C0270846
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
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.
Generalized tonic seizure
MedGen UID:
322935
Concept ID:
C1836508
Disease or Syndrome
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.

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

Diagnosis

Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free 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
Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free PMC Article

Clinical prediction guides

Subaran RL, Conte JM, Stewart WC, Greenberg DA
Epilepsia 2015 Feb;56(2):188-94. Epub 2014 Dec 8 doi: 10.1111/epi.12864. PMID: 25489633Free PMC Article

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