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Febrile seizures, familial, 4(FEB4)

MedGen UID:
347652
•Concept ID:
C1858493
•
Disease or Syndrome
Synonyms: CONVULSIONS, FAMILIAL FEBRILE, 4; FEB4
 
Gene (location): ADGRV1 (5q14.3)
 
Monarch Initiative: MONDO:0011443
OMIM®: 604352

Definition

Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene. [from MONDO]

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
Atonic seizure
MedGen UID:
78735
•Concept ID:
C0270846
•
Disease or Syndrome
Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.
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
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.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free PMC Article
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Cozijnsen MA, Nevitt SJ
Cochrane Database Syst Rev 2017 Feb 22;2(2):CD003031. doi: 10.1002/14651858.CD003031.pub3. PMID: 28225210Free PMC Article
Prophylactic drug management for febrile seizures in children (Review).
Offringa M, Newton R
Evid Based Child Health 2013 Jul;8(4):1376-485. doi: 10.1002/ebch.1921. PMID: 23877946

Recent clinical studies

Etiology

Vaccination and childhood epilepsies.
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM
Eur J Paediatr Neurol 2022 Jan;36:57-68. Epub 2021 Dec 3 doi: 10.1016/j.ejpn.2021.11.014. PMID: 34922162
Febrile seizures: perceptions and knowledge of parents of affected and unaffected children.
Rice SA, Müller RM, Jeschke S, Herziger B, Bertsche T, Neininger MP, Bertsche A
Eur J Pediatr 2022 Apr;181(4):1487-1495. Epub 2021 Dec 7 doi: 10.1007/s00431-021-04335-1. PMID: 34873647Free PMC Article
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free PMC Article
First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy.
Sartori S, Nosadini M, Tessarin G, Boniver C, Frigo AC, Toldo I, Bressan S, Da Dalt L
Dev Med Child Neurol 2019 Jan;61(1):82-90. Epub 2018 Sep 7 doi: 10.1111/dmcn.14015. PMID: 30191957
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
First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy.
Sartori S, Nosadini M, Tessarin G, Boniver C, Frigo AC, Toldo I, Bressan S, Da Dalt L
Dev Med Child Neurol 2019 Jan;61(1):82-90. Epub 2018 Sep 7 doi: 10.1111/dmcn.14015. PMID: 30191957
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives.
Gaspard N, Hirsch LJ, Sculier C, Loddenkemper T, van Baalen A, Lancrenon J, Emmery M, Specchio N, Farias-Moeller R, Wong N, Nabbout R
Epilepsia 2018 Apr;59(4):745-752. Epub 2018 Feb 24 doi: 10.1111/epi.14022. PMID: 29476535
Monogenic idiopathic epilepsies.
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E
Lancet Neurol 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. PMID: 15039033
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Therapy

Vaccination and childhood epilepsies.
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM
Eur J Paediatr Neurol 2022 Jan;36:57-68. Epub 2021 Dec 3 doi: 10.1016/j.ejpn.2021.11.014. PMID: 34922162
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
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free PMC Article
Monogenic idiopathic epilepsies.
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E
Lancet Neurol 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. PMID: 15039033
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Prognosis

Febrile seizures: perceptions and knowledge of parents of affected and unaffected children.
Rice SA, Müller RM, Jeschke S, Herziger B, Bertsche T, Neininger MP, Bertsche A
Eur J Pediatr 2022 Apr;181(4):1487-1495. Epub 2021 Dec 7 doi: 10.1007/s00431-021-04335-1. PMID: 34873647Free 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
First-ever convulsive seizures in children presenting to the emergency department: risk factors for seizure recurrence and diagnosis of epilepsy.
Sartori S, Nosadini M, Tessarin G, Boniver C, Frigo AC, Toldo I, Bressan S, Da Dalt L
Dev Med Child Neurol 2019 Jan;61(1):82-90. Epub 2018 Sep 7 doi: 10.1111/dmcn.14015. PMID: 30191957
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 children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Clinical prediction guides

Frequency and risk factors for febrile seizures during COVID-19 pandemic waves: an observational study.
Salleh H, Soon IS, Chong VH
Eur J Pediatr 2023 Jul;182(7):3337-3345. Epub 2023 May 13 doi: 10.1007/s00431-023-05021-0. PMID: 37178360Free PMC Article
Febrile seizures: perceptions and knowledge of parents of affected and unaffected children.
Rice SA, Müller RM, Jeschke S, Herziger B, Bertsche T, Neininger MP, Bertsche A
Eur J Pediatr 2022 Apr;181(4):1487-1495. Epub 2021 Dec 7 doi: 10.1007/s00431-021-04335-1. PMID: 34873647Free PMC Article
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free 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
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

Vaccination and childhood epilepsies.
Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N, Bakhtadze S, Cazacu C, Golli T, Zuberi SM
Eur J Paediatr Neurol 2022 Jan;36:57-68. Epub 2021 Dec 3 doi: 10.1016/j.ejpn.2021.11.014. PMID: 34922162
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Nevitt SJ, Vraka K
Cochrane Database Syst Rev 2021 Jun 16;6(6):CD003031. doi: 10.1002/14651858.CD003031.pub4. PMID: 34131913Free PMC Article
Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.
Prontera P, Sarchielli P, Caproni S, Bedetti C, Cupini LM, Calabresi P, Costa C
Cephalalgia 2018 Feb;38(2):361-373. Epub 2017 Jan 6 doi: 10.1177/0333102416686347. PMID: 28058944
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R, Cozijnsen MA, Nevitt SJ
Cochrane Database Syst Rev 2017 Feb 22;2(2):CD003031. doi: 10.1002/14651858.CD003031.pub3. PMID: 28225210Free PMC Article
Prophylactic drug management for febrile seizures in children.
Offringa M, Newton R
Cochrane Database Syst Rev 2012 Apr 18;(4):CD003031. doi: 10.1002/14651858.CD003031.pub2. PMID: 22513908

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