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Familial febrile seizures 9(FEB9)

MedGen UID:
369868
Concept ID:
C1968846
Disease or Syndrome
Synonyms: FEB9; FEBRILE CONVULSIONS, FAMILIAL, 9
 
Monarch Initiative: MONDO:0012707
OMIM®: 611634

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.
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

D'Gama AM, Mulhern S, Sheidley BR, Boodhoo F, Buts S, Chandler NJ, Cobb J, Curtis M, Higginbotham EJ, Holland J, Khan T, Koh J, Liang NSY, McRae L, Nesbitt SE, Oby BT, Paternoster B, Patton A, Rose G, Scotchman E, Valentine R, Wiltrout KN; Gene-STEPS Study Group; IPCHiP Executive Committee, Hayeems RZ, Jain P, Lunke S, Marshall CR, Rockowitz S, Sebire NJ, Stark Z, White SM, Chitty LS, Cross JH, Scheffer IE, Chau V, Costain G, Poduri A, Howell KB, McTague A
Lancet Neurol 2023 Sep;22(9):812-825. doi: 10.1016/S1474-4422(23)00246-6. PMID: 37596007
Gaffney GR, Bereznicki LR, Bereznicki BJ
Nurse Educ Today 2021 Feb;97:104731. Epub 2020 Dec 29 doi: 10.1016/j.nedt.2020.104731. PMID: 33385941
Gontko-Romanowska K, Żaba Z, Panieński P, Steinborn B, Szemień M, Łukasik-Głębocka M, Ratajczak K, Chrobak A, Mitkowska J, Górny J
Neurol Neurochir Pol 2017 Nov-Dec;51(6):454-458. Epub 2017 Jul 31 doi: 10.1016/j.pjnns.2017.07.011. PMID: 28803641

Recent clinical studies

Etiology

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
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
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
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
Mittal R
Indian J Pediatr 2014 Sep;81(9):909-16. Epub 2014 Aug 8 doi: 10.1007/s12098-014-1532-2. PMID: 25103013

Diagnosis

Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
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
Mittal R
Indian J Pediatr 2014 Sep;81(9):909-16. Epub 2014 Aug 8 doi: 10.1007/s12098-014-1532-2. PMID: 25103013
Davis RL, Barlow W
Paediatr Drugs 2003;5(11):717-22. doi: 10.2165/00148581-200305110-00001. PMID: 14580221

Therapy

Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
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
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
Kelley SA, Kossoff EH
Dev Med Child Neurol 2010 Nov;52(11):988-93. Epub 2010 Aug 16 doi: 10.1111/j.1469-8749.2010.03744.x. PMID: 20722665
Davis RL, Barlow W
Paediatr Drugs 2003;5(11):717-22. doi: 10.2165/00148581-200305110-00001. PMID: 14580221

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
Biro O, Gileles-Hillel A, Dor-Wollman T, Eisenstein EM, Berkun Y
Eur J Pediatr 2022 Mar;181(3):973-978. Epub 2021 Oct 15 doi: 10.1007/s00431-021-04286-7. PMID: 34652509
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
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
Kelley SA, Kossoff EH
Dev Med Child Neurol 2010 Nov;52(11):988-93. Epub 2010 Aug 16 doi: 10.1111/j.1469-8749.2010.03744.x. PMID: 20722665

Clinical prediction guides

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
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337
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
Chentouf A, Dahdouh A, Guipponi M, Oubaiche ML, Chaouch M, Hamamy H, Antonarakis SE
Seizure 2015 Sep;31:12-8. Epub 2015 Jul 3 doi: 10.1016/j.seizure.2015.06.015. PMID: 26362371
Davis RL, Barlow W
Paediatr Drugs 2003;5(11):717-22. doi: 10.2165/00148581-200305110-00001. PMID: 14580221

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
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
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
Lamberink HJ, Otte WM, Geerts AT, Pavlovic M, Ramos-Lizana J, Marson AG, Overweg J, Sauma L, Specchio LM, Tennison M, Cardoso TMO, Shinnar S, Schmidt D, Geleijns K, Braun KPJ
Lancet Neurol 2017 Jul;16(7):523-531. Epub 2017 May 5 doi: 10.1016/S1474-4422(17)30114-X. PMID: 28483337

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