U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Febrile seizures, familial, 11(FEB11)

MedGen UID:
482364
•Concept ID:
C3280734
•
Disease or Syndrome
Synonyms: CONVULSIONS, FAMILIAL FEBRILE, 11; FEB11
 
Gene (location): CPA6 (8q13.2)
 
Monarch Initiative: MONDO:0024566
OMIM®: 614418

Definition

Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012). For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210). [from OMIM]

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.
See: Feature record | Search on this feature
Focal impaired awareness seizure
MedGen UID:
543022
•Concept ID:
C0270834
•
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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
Hippocampal atrophy
MedGen UID:
939097
•Concept ID:
C4315130
•
Disease or Syndrome
Partial or complete wasting (loss) of hippocampus tissue that was once present.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Yield and Utility of Routine Epilepsy Panel Genetic Testing Among Young Patients With Seizures.
Grew E, Reddy M, Reichner H, Kim J, Salam M, Hashim A
J Child Neurol 2024 Mar;39(3-4):138-146. Epub 2024 Mar 25 doi: 10.1177/08830738241240516. PMID: 38528770
Management of children with febrile seizures: a Greek nationwide survey.
Kopsidas I, Dasoula FE, Kourkouni E, Krepi A, Mystakelis HΑ, Spyridis N, Vartzelis G
Eur J Pediatr 2023 Jul;182(7):3293-3300. Epub 2023 May 9 doi: 10.1007/s00431-023-05004-1. PMID: 37160780Free PMC Article
Current management of febrile seizures in Japan: an overview.
Sugai K
Brain Dev 2010 Jan;32(1):64-70. Epub 2009 Oct 22 doi: 10.1016/j.braindev.2009.09.019. PMID: 19853393

Recent clinical studies

Etiology

Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
Comparative Analysis of Roseoloviruses in Humans, Pigs, Mice, and Other Species.
Denner J, Bigley TM, Phan TL, Zimmermann C, Zhou X, Kaufer BB
Viruses 2019 Nov 30;11(12) doi: 10.3390/v11121108. PMID: 31801268Free PMC Article
Genetic Causes of Generalized Epilepsies.
Helbig I
Semin Neurol 2015 Jun;35(3):288-92. Epub 2015 Jun 10 doi: 10.1055/s-0035-1552922. PMID: 26060908
Febrile seizures: a population-based study.
Dalbem JS, Siqueira HH, Espinosa MM, Alvarenga RP
J Pediatr (Rio J) 2015 Nov-Dec;91(6):529-34. Epub 2015 May 26 doi: 10.1016/j.jped.2015.01.005. PMID: 26022778
Febrile seizures: recent developments and unanswered questions.
Pavlidou E, Hagel C, Panteliadis C
Childs Nerv Syst 2013 Nov;29(11):2011-7. Epub 2013 Jul 12 doi: 10.1007/s00381-013-2224-3. PMID: 23846392

Diagnosis

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan MA, Symonds J, Andrew J, Arzimanoglou A, Delima S, Gallois J, Hanrahan D, Lesca G, MacLeod S, Marjanovic D, McTague A, Nuñez-Enamorado N, Perez-Palma E, Scott Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U, Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS, Mantegazza M, Cestèle S
Brain 2022 Nov 21;145(11):3816-3831. doi: 10.1093/brain/awac210. PMID: 35696452Free PMC Article
Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
SCN1A-related phenotypes: Epilepsy and beyond.
Scheffer IE, Nabbout R
Epilepsia 2019 Dec;60 Suppl 3:S17-S24. doi: 10.1111/epi.16386. PMID: 31904117
Febrile seizures: a population-based study.
Dalbem JS, Siqueira HH, Espinosa MM, Alvarenga RP
J Pediatr (Rio J) 2015 Nov-Dec;91(6):529-34. Epub 2015 May 26 doi: 10.1016/j.jped.2015.01.005. PMID: 26022778
Febrile seizures: recent developments and unanswered questions.
Pavlidou E, Hagel C, Panteliadis C
Childs Nerv Syst 2013 Nov;29(11):2011-7. Epub 2013 Jul 12 doi: 10.1007/s00381-013-2224-3. PMID: 23846392

Therapy

Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
Comparative Analysis of Roseoloviruses in Humans, Pigs, Mice, and Other Species.
Denner J, Bigley TM, Phan TL, Zimmermann C, Zhou X, Kaufer BB
Viruses 2019 Nov 30;11(12) doi: 10.3390/v11121108. PMID: 31801268Free PMC Article
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J
Neurology 2019 Mar 12;92(11):e1238-e1249. Epub 2019 Feb 8 doi: 10.1212/WNL.0000000000007089. PMID: 30737342Free PMC Article
Common variants associated with general and MMR vaccine-related febrile seizures.
Feenstra B, Pasternak B, Geller F, Carstensen L, Wang T, Huang F, Eitson JL, Hollegaard MV, Svanström H, Vestergaard M, Hougaard DM, Schoggins JW, Jan LY, Melbye M, Hviid A
Nat Genet 2014 Dec;46(12):1274-82. Epub 2014 Oct 26 doi: 10.1038/ng.3129. PMID: 25344690Free PMC Article
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
Kelley SA, Kossoff EH
Dev Med Child Neurol 2010 Nov;52(11):988-93. Epub 2010 Aug 16 doi: 10.1111/j.1469-8749.2010.03744.x. PMID: 20722665

Prognosis

Core Features Differentiate Dravet Syndrome from Febrile Seizures.
Nordli DR 3rd, Nordli DR Jr, Galan FN
J Pediatr 2023 Jul;258:113416. Epub 2023 Apr 6 doi: 10.1016/j.jpeds.2023.113416. PMID: 37030608
Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J
Neurology 2019 Mar 12;92(11):e1238-e1249. Epub 2019 Feb 8 doi: 10.1212/WNL.0000000000007089. PMID: 30737342Free PMC Article
Febrile seizures: recent developments and unanswered questions.
Pavlidou E, Hagel C, Panteliadis C
Childs Nerv Syst 2013 Nov;29(11):2011-7. Epub 2013 Jul 12 doi: 10.1007/s00381-013-2224-3. PMID: 23846392
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
Kelley SA, Kossoff EH
Dev Med Child Neurol 2010 Nov;52(11):988-93. Epub 2010 Aug 16 doi: 10.1111/j.1469-8749.2010.03744.x. PMID: 20722665

Clinical prediction guides

Development of a prediction nomogram model of recurrent febrile seizures in pediatric children.
Shao L, Yu Y
Eur J Pediatr 2023 Nov;182(11):4875-4888. Epub 2023 Aug 19 doi: 10.1007/s00431-023-05133-7. PMID: 37597045
Clinical spectrum of STX1B-related epileptic disorders.
Wolking S, May P, Mei D, Møller RS, Balestrini S, Helbig KL, Altuzarra CD, Chatron N, Kaiwar C, Stöhr K, Widdess-Walsh P, Mendelsohn BA, Numis A, Cilio MR, Van Paesschen W, Svendsen LL, Oates S, Hughes E, Goyal S, Brown K, Sifuentes Saenz M, Dorn T, Muhle H, Pagnamenta AT, Vavoulis DV, Knight SJL, Taylor JC, Canevini MP, Darra F, Gavrilova RH, Powis Z, Tang S, Marquetand J, Armstrong M, McHale D, Klee EW, Kluger GJ, Lowenstein DH, Weckhuysen S, Pal DK, Helbig I, Guerrini R, Thomas RH, Rees MI, Lesca G, Sisodiya SM, Weber YG, Lal D, Marini C, Lerche H, Schubert J
Neurology 2019 Mar 12;92(11):e1238-e1249. Epub 2019 Feb 8 doi: 10.1212/WNL.0000000000007089. PMID: 30737342Free PMC Article
Febrile seizures: recent developments and unanswered questions.
Pavlidou E, Hagel C, Panteliadis C
Childs Nerv Syst 2013 Nov;29(11):2011-7. Epub 2013 Jul 12 doi: 10.1007/s00381-013-2224-3. PMID: 23846392
Epilepsy in patients with Angelman syndrome.
Fiumara A, Pittalà A, Cocuzza M, Sorge G
Ital J Pediatr 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. PMID: 20398390Free PMC Article
Current management of febrile seizures in Japan: an overview.
Sugai K
Brain Dev 2010 Jan;32(1):64-70. Epub 2009 Oct 22 doi: 10.1016/j.braindev.2009.09.019. PMID: 19853393

Recent systematic reviews

Defining the Clinicoradiologic Syndrome of SARS-CoV-2 Acute Necrotizing Encephalopathy: A Systematic Review and 3 New Pediatric Cases.
Lee VW, Kam KQ, Mohamed AR, Musa H, Anandakrishnan P, Shen Q, Palazzo AF, Dale RC, Lim M, Thomas T
Neurol Neuroimmunol Neuroinflamm 2024 Jan;11(1):e200186. Epub 2023 Dec 7 doi: 10.1212/NXI.0000000000200186. PMID: 38086061Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...