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Febrile seizures, familial, 8(FEB8)

MedGen UID:
370755
Concept ID:
C1969810
Disease or Syndrome
Synonyms: CONVULSIONS, FAMILIAL FEBRILE, 8; FEB8; GABRG2-Related Generalized Epilepsy with Febrile Seizures Plus
 
Gene (location): GABRG2 (5q34)
 
Monarch Initiative: MONDO:0011891
OMIM®: 607681

Definition

Mutations in the GABRG2 gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype. Patients with isolated febrile seizures usually have onset in the first year of life and show spontaneous remission by age 6 years. Many of these patients may later develop absence seizures, which may also spontaneously remit, whereas a few may continue to have various types of febrile and afebrile seizures that persist beyond childhood, consistent with GEFS+. There is phenotypic variability in the seizure type, even within a family carrying the same mutation, suggesting that other loci may be involved (summary by Singh et al., 1999 and Marini et al., 2003). For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see 121210. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. For a phenotypic description and discussion of genetic heterogeneity of childhood absence epilepsy, see 600131. [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.
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.
EEG with polyspike wave complexes
MedGen UID:
867392
Concept ID:
C4021757
Finding
The presence of complexes of repetitive spikes and waves in EEG.
EEG with spike-wave complexes (>3.5 Hz)
MedGen UID:
892339
Concept ID:
C4023684
Finding
The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG).
Generalized non-motor (absence) seizure
MedGen UID:
1385688
Concept ID:
C4316903
Disease or Syndrome
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.

Professional guidelines

PubMed

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
Offringa M, Newton R
Evid Based Child Health 2013 Jul;8(4):1376-485. doi: 10.1002/ebch.1921. PMID: 23877946
Offringa M, Newton R
Cochrane Database Syst Rev 2012 Apr 18;(4):CD003031. doi: 10.1002/14651858.CD003031.pub2. PMID: 22513908

Recent clinical studies

Etiology

Dale RC, Thomas T, Patel S, Han VX, Kothur K, Troedson C, Gupta S, Gill D, Malone S, Waak M, Calvert S, Subramanian G, Andrews PI, Kandula T, Menezes MP, Ardern-Holmes S, Mohammad S, Bandodkar S, Yan J
Ann Clin Transl Neurol 2023 Aug;10(8):1417-1432. Epub 2023 Jun 20 doi: 10.1002/acn3.51832. PMID: 37340737Free PMC Article
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
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
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
Baumann RJ
Paediatr Drugs 2001;3(8):585-92. doi: 10.2165/00128072-200103080-00003. PMID: 11577923

Diagnosis

Dale RC, Thomas T, Patel S, Han VX, Kothur K, Troedson C, Gupta S, Gill D, Malone S, Waak M, Calvert S, Subramanian G, Andrews PI, Kandula T, Menezes MP, Ardern-Holmes S, Mohammad S, Bandodkar S, Yan J
Ann Clin Transl Neurol 2023 Aug;10(8):1417-1432. Epub 2023 Jun 20 doi: 10.1002/acn3.51832. PMID: 37340737Free PMC Article
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
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
Varma RR
Indian J Pediatr 2002 Aug;69(8):697-700. doi: 10.1007/BF02722707. PMID: 12356222
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Therapy

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
Higuchi Y, Kubo T, Mitsuhashi T, Nakamura N, Yokota I, Komiyama O, Kamimaki I, Yamamoto S, Uchida Y, Watanabe K, Yamashita H, Tanaka S, Iguchi K, Ichimi R, Miyagawa S, Takayanagi T, Koga H, Shukuya A, Saito A, Horibe K
Pediatr Neurol 2017 Feb;67:78-84. Epub 2016 Aug 3 doi: 10.1016/j.pediatrneurol.2016.05.011. PMID: 28094168
Sfaihi L, Maaloul I, Kmiha S, Aloulou H, Chabchoub I, Kamoun T, Hachicha M
Childs Nerv Syst 2012 Oct;28(10):1779-84. Epub 2012 May 9 doi: 10.1007/s00381-012-1789-6. PMID: 22570169
Baumann RJ
Paediatr Drugs 2001;3(8):585-92. doi: 10.2165/00128072-200103080-00003. PMID: 11577923
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

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
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
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
Baumann RJ
Paediatr Drugs 2001;3(8):585-92. doi: 10.2165/00128072-200103080-00003. PMID: 11577923
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

Kajiwara K, Koga H
Eur J Pediatr 2022 Aug;181(8):3103-3110. Epub 2022 Jun 17 doi: 10.1007/s00431-022-04529-1. PMID: 35713689
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
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
Higuchi Y, Kubo T, Mitsuhashi T, Nakamura N, Yokota I, Komiyama O, Kamimaki I, Yamamoto S, Uchida Y, Watanabe K, Yamashita H, Tanaka S, Iguchi K, Ichimi R, Miyagawa S, Takayanagi T, Koga H, Shukuya A, Saito A, Horibe K
Pediatr Neurol 2017 Feb;67:78-84. Epub 2016 Aug 3 doi: 10.1016/j.pediatrneurol.2016.05.011. PMID: 28094168
Sfaihi L, Maaloul I, Kmiha S, Aloulou H, Chabchoub I, Kamoun T, Hachicha M
Childs Nerv Syst 2012 Oct;28(10):1779-84. Epub 2012 May 9 doi: 10.1007/s00381-012-1789-6. PMID: 22570169

Recent systematic reviews

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
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
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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