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Febrile seizures, familial, 2(FEB2)

MedGen UID:
355446
Concept ID:
C1865342
Disease or Syndrome
Synonyms: Convulsions, familial febrile, 2; FEB2
 
Monarch Initiative: MONDO:0011231
OMIM®: 602477; 602781

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]

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, Cozijnsen MA, Nevitt SJ
Cochrane Database Syst Rev 2017 Feb 22;2(2):CD003031. doi: 10.1002/14651858.CD003031.pub3. PMID: 28225210Free PMC Article
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

Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
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
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
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
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463

Diagnosis

Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
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
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Therapy

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
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
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Rosman NP, Douglass LM, Paolini JL
J Pediatr 2001 Apr;138(4):548-52. doi: 10.1067/mpd.2001.112169. PMID: 11295719
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Prognosis

Leung JS
Curr Pediatr Rev 2024;20(1):43-58. doi: 10.2174/1573396318666220829121946. PMID: 36043723
Myers KA
Continuum (Minneap Minn) 2022 Apr 1;28(2):339-362. doi: 10.1212/CON.0000000000001077. PMID: 35393962
Brunklaus A, Schorge S, Smith AD, Ghanty I, Stewart K, Gardiner S, Du J, Pérez-Palma E, Symonds JD, Collier AC, Lal D, Zuberi SM
Hum Mutat 2020 Feb;41(2):363-374. Epub 2019 Nov 28 doi: 10.1002/humu.23943. PMID: 31782251
Shinnar S, Glauser TA
J Child Neurol 2002 Jan;17 Suppl 1:S44-52. doi: 10.1177/08830738020170010601. PMID: 11918463
Gilligan B
Aust Fam Physician 1979 Feb;8(2):179-94. PMID: 106817

Clinical prediction guides

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: 37597255Free 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
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
Berg AT, Shinnar S
Epilepsia 1996 Feb;37(2):126-33. doi: 10.1111/j.1528-1157.1996.tb00003.x. PMID: 8635422

Recent systematic reviews

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
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
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
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
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

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