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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

Febrile Seizures: An Updated Narrative Review for Pediatric Ambulatory Care Providers.
Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
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
Pediatric seizures and vaccines.
Kerstenetzky L, Gidal B
J Am Pharm Assoc (2003) 2015 Jul-Aug;55(4):457-8, 460. doi: 10.1331/JAPhA.2015.15522. PMID: 26161490

Diagnosis

Febrile Seizures: An Updated Narrative Review for Pediatric Ambulatory Care Providers.
Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
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
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
Pediatric seizures and vaccines.
Kerstenetzky L, Gidal B
J Am Pharm Assoc (2003) 2015 Jul-Aug;55(4):457-8, 460. doi: 10.1331/JAPhA.2015.15522. PMID: 26161490
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

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
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
Pediatric seizures and vaccines.
Kerstenetzky L, Gidal B
J Am Pharm Assoc (2003) 2015 Jul-Aug;55(4):457-8, 460. doi: 10.1331/JAPhA.2015.15522. PMID: 26161490
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: An Updated Narrative Review for Pediatric Ambulatory Care Providers.
Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
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
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
Benign mesial temporal lobe epilepsy.
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461
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
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
Benign mesial temporal lobe epilepsy.
Labate A, Gambardella A, Andermann E, Aguglia U, Cendes F, Berkovic SF, Andermann F
Nat Rev Neurol 2011 Apr;7(4):237-40. Epub 2011 Jan 25 doi: 10.1038/nrneurol.2010.212. PMID: 21263461

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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