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Febrile seizures, familial, 3a(FEB3A)

MedGen UID:
442807
•Concept ID:
C2751756
•
Disease or Syndrome
Synonyms: Antiepileptic drugs, response to; FEBRILE SEIZURES, FAMILIAL, 3A, SUSCEPTIBILITY TO
 
Monarch Initiative: MONDO:0800329
OMIM®: 182389; 604403

Definition

An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome. [from NCI]

Recent clinical studies

Etiology

Predictors of unprovoked seizure after febrile seizure: short-term outcomes.
Hwang G, Kang HS, Park SY, Han KH, Kim SH
Brain Dev 2015 Mar;37(3):315-21. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.003. PMID: 24985020
Occipital sharp waves in idiopathic partial epilepsies--clinical and genetic aspects.
Doose H, Petersen B, Neubauer BA
Epilepsy Res 2002 Jan;48(1-2):121-30. doi: 10.1016/s0920-1211(01)00324-2. PMID: 11823116

Diagnosis

Predictors of unprovoked seizure after febrile seizure: short-term outcomes.
Hwang G, Kang HS, Park SY, Han KH, Kim SH
Brain Dev 2015 Mar;37(3):315-21. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.003. PMID: 24985020

Prognosis

Predictors of unprovoked seizure after febrile seizure: short-term outcomes.
Hwang G, Kang HS, Park SY, Han KH, Kim SH
Brain Dev 2015 Mar;37(3):315-21. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.003. PMID: 24985020
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.
Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H
J Physiol 2000 Dec 15;529 Pt 3(Pt 3):533-9. doi: 10.1111/j.1469-7793.2000.00533.x. PMID: 11118488Free PMC Article

Clinical prediction guides

Predictors of unprovoked seizure after febrile seizure: short-term outcomes.
Hwang G, Kang HS, Park SY, Han KH, Kim SH
Brain Dev 2015 Mar;37(3):315-21. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.003. PMID: 24985020
A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro.
Alekov A, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H
J Physiol 2000 Dec 15;529 Pt 3(Pt 3):533-9. doi: 10.1111/j.1469-7793.2000.00533.x. PMID: 11118488Free PMC Article

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