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Febrile seizures, familial, 2(EIG17)

MedGen UID:
355446
•Concept ID:
C1865342
•
Disease or Syndrome
Synonyms: EIG17; FEB2
 
Gene (location): HCN2 (19p13.3)
 
Monarch Initiative: MONDO:0011231
OMIM®: 602477

Definition

Mutation in the HCN2 gene can cause a spectrum of seizure disorders beginning in childhood or adolescence. Affected individuals may have simple febrile seizures or more complex afebrile seizures, including tonic-clonic, myoclonic, and photosensitive. Rare patients may have mild intellectual disability or behavioral problems (summary by Li et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of idiopathic generalized epilepsy, see EIG (600669). For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (121210). For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see 604233. [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
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 characterised 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
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

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
Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics.
Levine JM, Ahsan N, Ho E, Santoro JD
Mult Scler Relat Disord 2020 Aug;43:102194. Epub 2020 May 15 doi: 10.1016/j.msard.2020.102194. PMID: 32426208Free PMC Article
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

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
Febrile seizures: risks, evaluation, and prognosis.
Graves RC, Oehler K, Tingle LE
Am Fam Physician 2012 Jan 15;85(2):149-53. PMID: 22335215
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Epilepsy.
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

Genetic Epilepsy Syndromes.
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Genetic Acute Necrotizing Encephalopathy Associated with RANBP2: Clinical and Therapeutic Implications in Pediatrics.
Levine JM, Ahsan N, Ho E, Santoro JD
Mult Scler Relat Disord 2020 Aug;43:102194. Epub 2020 May 15 doi: 10.1016/j.msard.2020.102194. PMID: 32426208Free PMC Article
Febrile seizures: risks, evaluation, and prognosis.
Graves RC, Oehler K, Tingle LE
Am Fam Physician 2012 Jan 15;85(2):149-53. PMID: 22335215
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article
Febrile seizures.
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Clinical prediction guides

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
Harris RV, Oliver KL, Perucca P, Striano P, Labate A, Riva A, Grinton BE, Reid J, Hutton J, Todaro M, O'Brien TJ, Kwan P, Sadleir LG, Mullen SA, Dazzo E, Crompton DE, Scheffer IE, Bahlo M, Nobile C, Gambardella A, Berkovic SF
Ann Neurol 2023 Nov;94(5):825-835. Epub 2023 Aug 31 doi: 10.1002/ana.26765. PMID: 37597255
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
Sotos syndrome.
Baujat G, Cormier-Daire V
Orphanet J Rare Dis 2007 Sep 7;2:36. doi: 10.1186/1750-1172-2-36. PMID: 17825104Free PMC Article

Recent systematic reviews

Association between high-mobility group box 1 levels and febrile seizures in children: a systematic review and meta-analysis.
Li S, Zhao Q, Sun J, Yan W, Wang J, Gao X, Li X, Ren C, Hao L
Sci Rep 2023 Mar 3;13(1):3619. doi: 10.1038/s41598-023-30713-w. PMID: 36869074Free PMC Article
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
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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