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Generalized epilepsy with febrile seizures plus, type 4(GEFS+4; GEFSP4)

MedGen UID:
342858
Concept ID:
C1853345
Disease or Syndrome
Synonyms: GEFS+, TYPE 4; GEFSP4
 
Monarch Initiative: MONDO:0012346
OMIM®: 609800

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.
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.
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

Recent clinical studies

Etiology

Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D
Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779
Wu FF, Gordon E, Hoffman EP, Cannon SC
J Physiol 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17 doi: 10.1113/jphysiol.2005.082909. PMID: 15774523Free PMC Article

Diagnosis

Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR
Am J Med Genet A 2019 Nov;179(11):2190-2195. Epub 2019 Aug 29 doi: 10.1002/ajmg.a.61344. PMID: 31465153
Terczyńska I, Szczepanik E, Duszyc K, Górka P, Tataj R, Hoffman-Zacharska D
Dev Period Med 2014 Oct-Dec;18(4):426-31. PMID: 25874779
Bouthour W, Leroy F, Emmanuelli C, Carnaud M, Dahan M, Poncer JC, Lévi S
Cereb Cortex 2012 Jul;22(7):1542-53. Epub 2011 Sep 9 doi: 10.1093/cercor/bhr225. PMID: 21908847
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH
Am J Hum Genet 2001 Apr;68(4):866-73. Epub 2001 Mar 14 doi: 10.1086/319524. PMID: 11254445Free PMC Article

Prognosis

Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR
Am J Med Genet A 2019 Nov;179(11):2190-2195. Epub 2019 Aug 29 doi: 10.1002/ajmg.a.61344. PMID: 31465153
Wu FF, Gordon E, Hoffman EP, Cannon SC
J Physiol 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17 doi: 10.1113/jphysiol.2005.082909. PMID: 15774523Free PMC Article
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

Darras N, Ha TK, Rego S, Martin PM, Barroso E, Slavotinek AM, Cilio MR
Am J Med Genet A 2019 Nov;179(11):2190-2195. Epub 2019 Aug 29 doi: 10.1002/ajmg.a.61344. PMID: 31465153
Ceulemans BP, Claes LR, Lagae LG
Pediatr Neurol 2004 Apr;30(4):236-43. doi: 10.1016/j.pediatrneurol.2003.10.012. PMID: 15087100
Escayg A, Heils A, MacDonald BT, Haug K, Sander T, Meisler MH
Am J Hum Genet 2001 Apr;68(4):866-73. Epub 2001 Mar 14 doi: 10.1086/319524. PMID: 11254445Free PMC Article
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
Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T, Ohto T, Yokouchi Y, Tanaka R, Hasegawa M, Matsui A, Hamaguchi H, Arinami T
Hum Mol Genet 2000 Jan 1;9(1):87-91. doi: 10.1093/hmg/9.1.87. PMID: 10587582

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