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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
Clinical profile and treatment outcome of epilepsy syndromes in children: A hospital-based study in Eastern Nepal.
Poudel P, Kafle SP, Pokharel R
Epilepsia Open 2021 Mar;6(1):206-215. Epub 2021 Feb 8 doi: 10.1002/epi4.12470. PMID: 33681663Free 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

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
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 in children with familial Mediterranean fever: Coincidence or association?
Çomak E, Tüfekçi Ö, Kılıçbay F, Isıyel E, Sever AH, Aslanger A, Ekici B
Eur J Paediatr Neurol 2015 Sep;19(5):572-6. Epub 2015 May 16 doi: 10.1016/j.ejpn.2015.05.004. PMID: 26028444
Withdrawal of antiepileptic drugs: guidelines of the Italian League Against Epilepsy.
Beghi E, Giussani G, Grosso S, Iudice A, La Neve A, Pisani F, Specchio LM, Verrotti A, Capovilla G, Michelucci R, Zaccara G
Epilepsia 2013 Oct;54 Suppl 7:2-12. doi: 10.1111/epi.12305. PMID: 24099051

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
Recognition and management of febrile convulsions in children.
Kavanagh FA, Heaton PA, Cannon A, Paul SP
Br J Nurs 2018 Nov 8;27(20):1156-1162. doi: 10.12968/bjon.2018.27.20.1156. PMID: 30418862
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
Febrile seizures in children with familial Mediterranean fever: Coincidence or association?
Çomak E, Tüfekçi Ö, Kılıçbay F, Isıyel E, Sever AH, Aslanger A, Ekici B
Eur J Paediatr Neurol 2015 Sep;19(5):572-6. Epub 2015 May 16 doi: 10.1016/j.ejpn.2015.05.004. PMID: 26028444

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
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
Withdrawal of antiepileptic drugs: guidelines of the Italian League Against Epilepsy.
Beghi E, Giussani G, Grosso S, Iudice A, La Neve A, Pisani F, Specchio LM, Verrotti A, Capovilla G, Michelucci R, Zaccara G
Epilepsia 2013 Oct;54 Suppl 7:2-12. doi: 10.1111/epi.12305. PMID: 24099051
Epilepsy in children.
Arnold ST, Dodson WE
Baillieres Clin Neurol 1996 Dec;5(4):783-802. PMID: 9068881

Prognosis

Developmental evaluation in children experiencing febrile convulsions.
İpek R, Makharoblidze K, Polat BG, Direk MÇ, Yıldırım DD, Kömür M, Okuyaz Ç
Turk J Pediatr 2021;63(4):602-611. doi: 10.24953/turkjped.2021.04.007. PMID: 34449142
Defining Dravet syndrome: An essential pre-requisite for precision medicine trials.
Li W, Schneider AL, Scheffer IE
Epilepsia 2021 Sep;62(9):2205-2217. Epub 2021 Aug 2 doi: 10.1111/epi.17015. PMID: 34338318Free 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
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
Clinical update: febrile convulsion in childhood.
Paul SP, Blaikley S, Chinthapalli R
Community Pract 2012 Jul;85(7):36-8. PMID: 22866531

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
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
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
Predictors of unprovoked seizure after febrile seizure: short-term outcomes.
Hwang G, Kang HS, Park SY, Han KH, Kim SH
Brain Dev 2015 Mar;37(3):315-21. Epub 2014 Jun 28 doi: 10.1016/j.braindev.2014.06.003. PMID: 24985020
Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis.
Yang X, Zhang Y, Xu X, Wang S, Yang Z, Wu Y, Liu X, Wu X
BMC Neurol 2013 Dec 26;13:209. doi: 10.1186/1471-2377-13-209. PMID: 24370076Free PMC Article

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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