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

No association between SCN9A and monogenic human epilepsy disorders.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL
PLoS Genet 2020 Nov;16(11):e1009161. Epub 2020 Nov 20 doi: 10.1371/journal.pgen.1009161. PMID: 33216760Free PMC Article
Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study.
Hu LY, Shi XY, Li H, Zhang MN, Ma SF, Zou LP
Ital J Pediatr 2018 Jun 15;44(1):70. doi: 10.1186/s13052-018-0507-8. PMID: 29907116Free 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
Correlates of hot water epilepsy in rural south India: a descriptive study.
Gururaj G, Satishchandra P
Neuroepidemiology 1992;11(4-6):173-9. doi: 10.1159/000110929. PMID: 1291880
History of convulsions and use of pertussis vaccine.
Stetler HC, Orenstein WA, Bart KJ, Brink EW, Brennan JP, Hinman AR
J Pediatr 1985 Aug;107(2):175-9. doi: 10.1016/s0022-3476(85)80120-7. PMID: 3874940

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
SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, Rastetter A, Keren B, Des Portes V, Toulouse J, Gourfinkel-An I, Leguern E, Depienne C, Mignot C, Nava C
Eur J Paediatr Neurol 2021 Jul;33:121-124. Epub 2021 Jun 5 doi: 10.1016/j.ejpn.2021.05.018. PMID: 34174751
No association between SCN9A and monogenic human epilepsy disorders.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL
PLoS Genet 2020 Nov;16(11):e1009161. Epub 2020 Nov 20 doi: 10.1371/journal.pgen.1009161. PMID: 33216760Free PMC Article
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
Disseminated tuberculosis presenting as febrile seizures with fatal evolution in an infant.
Petrescu IO, Gheonea C, Voican CS, Ciobanu D, Niţu M, Petrescu F
Rom J Morphol Embryol 2014;55(4):1483-9. PMID: 25611286

Therapy

Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study.
Hu LY, Shi XY, Li H, Zhang MN, Ma SF, Zou LP
Ital J Pediatr 2018 Jun 15;44(1):70. doi: 10.1186/s13052-018-0507-8. PMID: 29907116Free 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
Clinical significance of isolated hippocampal volume asymmetry in childhood epilepsy.
Major P, Décarie JC, Nadeau A, Diadori P, Lortie A, Nguyen D, Cossette P, Carmant L
Neurology 2004 Oct 26;63(8):1503-6. doi: 10.1212/01.wnl.0000142079.79612.cb. PMID: 15505176
Correlates of hot water epilepsy in rural south India: a descriptive study.
Gururaj G, Satishchandra P
Neuroepidemiology 1992;11(4-6):173-9. doi: 10.1159/000110929. PMID: 1291880
History of convulsions and use of pertussis vaccine.
Stetler HC, Orenstein WA, Bart KJ, Brink EW, Brennan JP, Hinman AR
J Pediatr 1985 Aug;107(2):175-9. doi: 10.1016/s0022-3476(85)80120-7. PMID: 3874940

Prognosis

No association between SCN9A and monogenic human epilepsy disorders.
Fasham J, Leslie JS, Harrison JW, Deline J, Williams KB, Kuhl A, Scott Schwoerer J, Cross HE, Crosby AH, Baple EL
PLoS Genet 2020 Nov;16(11):e1009161. Epub 2020 Nov 20 doi: 10.1371/journal.pgen.1009161. PMID: 33216760Free PMC Article
Intermittent oral levetiracetam reduced recurrence of febrile seizure accompanied with epileptiform discharge: a pilot study.
Hu LY, Shi XY, Li H, Zhang MN, Ma SF, Zou LP
Ital J Pediatr 2018 Jun 15;44(1):70. doi: 10.1186/s13052-018-0507-8. PMID: 29907116Free PMC Article
Disseminated tuberculosis presenting as febrile seizures with fatal evolution in an infant.
Petrescu IO, Gheonea C, Voican CS, Ciobanu D, Niţu M, Petrescu F
Rom J Morphol Embryol 2014;55(4):1483-9. PMID: 25611286
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
Incidence of febrile seizures in The Netherlands.
Verburgh ME, Bruijnzeels MA, van der Wouden JC, van Suijlekom-Smit LW, van der Velden J, Hoes AW, Offringa M
Neuroepidemiology 1992;11(4-6):169-72. doi: 10.1159/000110928. PMID: 1291879

Clinical prediction guides

SCN1A-related epilepsy with recessive inheritance: Two further families.
Moretti R, Arnaud L, Bouteiller D, Trouillard O, Moreau P, Buratti J, Rastetter A, Keren B, Des Portes V, Toulouse J, Gourfinkel-An I, Leguern E, Depienne C, Mignot C, Nava C
Eur J Paediatr Neurol 2021 Jul;33:121-124. Epub 2021 Jun 5 doi: 10.1016/j.ejpn.2021.05.018. PMID: 34174751
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S
Ann Clin Transl Neurol 2019 Nov;6(11):2317-2322. Epub 2019 Sep 30 doi: 10.1002/acn3.50895. PMID: 31568673Free PMC Article
The first genome-wide scan in a tunisian family with generalized epilepsy with febrile seizure plus (GEFS+).
Fendri-Kriaa N, Louhichi N, Mkaouar-Rebai E, Chabchoub G, Kammoun F, Salem IH, Rebai A, Triki C, Fakhfakh F
J Child Neurol 2010 Nov;25(11):1362-8. Epub 2010 Apr 9 doi: 10.1177/0883073810365739. PMID: 20382841
Clinical significance of isolated hippocampal volume asymmetry in childhood epilepsy.
Major P, Décarie JC, Nadeau A, Diadori P, Lortie A, Nguyen D, Cossette P, Carmant L
Neurology 2004 Oct 26;63(8):1503-6. doi: 10.1212/01.wnl.0000142079.79612.cb. PMID: 15505176
Correlates of hot water epilepsy in rural south India: a descriptive study.
Gururaj G, Satishchandra P
Neuroepidemiology 1992;11(4-6):173-9. doi: 10.1159/000110929. PMID: 1291880

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...