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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.
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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
Potential Role of Febrile Seizures and Other Risk Factors Associated With Sudden Deaths in Children.
Crandall LG, Lee JH, Stainman R, Friedman D, Devinsky O
JAMA Netw Open 2019 Apr 5;2(4):e192739. doi: 10.1001/jamanetworkopen.2019.2739. PMID: 31026025Free PMC Article
Long-term prognosis of childhood absence epilepsy.
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
GRIN2A mutations in epilepsy-aphasia spectrum disorders.
Yang X, Qian P, Xu X, Liu X, Wu X, Zhang Y, Yang Z
Brain Dev 2018 Mar;40(3):205-210. Epub 2017 Oct 19 doi: 10.1016/j.braindev.2017.09.007. PMID: 29056244
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
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
Long-term prognosis of childhood absence epilepsy.
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
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

Therapy

Background incidence rates of adverse events of special interest related to COVID-19 vaccines in Ontario, Canada, 2015 to 2020, to inform COVID-19 vaccine safety surveillance.
Nasreen S, Calzavara A, Buchan SA, Thampi N, Johnson C, Wilson SE, Kwong JC; Canadian Immunization Research Network (CIRN) Provincial Collaborative Network (PCN) Ontario investigators
Vaccine 2022 May 26;40(24):3305-3312. Epub 2022 Apr 27 doi: 10.1016/j.vaccine.2022.04.065. PMID: 35527057Free PMC Article
Anxiety of families after first unprovoked or first febrile seizure - A prospective, randomized pilot study.
Klotz KA, Özcan J, Sag Y, Schönberger J, Kaier K, Jacobs J
Epilepsy Behav 2021 Sep;122:108120. Epub 2021 Jun 15 doi: 10.1016/j.yebeh.2021.108120. PMID: 34144460
Long-term prognosis of childhood absence epilepsy.
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W
Orphanet J Rare Dis 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. PMID: 23742248Free 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

Has the Incidence of Febrile Convulsions in Childhood Changed During the SARS-CoV-2 Pandemic?
Kovacs M, Makszin L, Nyul Z, Hollody K
J Child Neurol 2024 May;39(5-6):190-194. Epub 2024 May 2 doi: 10.1177/08830738241249630. PMID: 38698642Free PMC Article
Epidemiology of Epilepsy in Nigeria: A Community-Based Study From 3 Sites.
Watila MM, Balarabe SA, Komolafe MA, Igwe SC, Fawale MB, Otte WM, van Diessen E, Okunoye O, Mshelia AA, Abdullahi I, Musa J, Hedima EW, Nyandaiti YW, Singh G, Winkler AS, Sander JW
Neurology 2021 Aug 17;97(7):e728-e738. Epub 2021 Jul 12 doi: 10.1212/WNL.0000000000012416. PMID: 34253632
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
Long-term prognosis of childhood absence epilepsy.
Martínez-Ferrández C, Martínez-Salcedo E, Casas-Fernández C, Alarcón-Martínez H, Ibáñez-Micó S, Domingo-Jiménez R
Neurologia (Engl Ed) 2019 May;34(4):224-228. Epub 2017 Mar 18 doi: 10.1016/j.nrl.2016.12.005. PMID: 28325560
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

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
Background incidence rates of adverse events of special interest related to COVID-19 vaccines in Ontario, Canada, 2015 to 2020, to inform COVID-19 vaccine safety surveillance.
Nasreen S, Calzavara A, Buchan SA, Thampi N, Johnson C, Wilson SE, Kwong JC; Canadian Immunization Research Network (CIRN) Provincial Collaborative Network (PCN) Ontario investigators
Vaccine 2022 May 26;40(24):3305-3312. Epub 2022 Apr 27 doi: 10.1016/j.vaccine.2022.04.065. PMID: 35527057Free PMC Article
Anxiety of families after first unprovoked or first febrile seizure - A prospective, randomized pilot study.
Klotz KA, Özcan J, Sag Y, Schönberger J, Kaier K, Jacobs J
Epilepsy Behav 2021 Sep;122:108120. Epub 2021 Jun 15 doi: 10.1016/j.yebeh.2021.108120. PMID: 34144460
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

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

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