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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.
See: Feature record | Search on this feature
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).
See: Feature record | Search on this feature
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.
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Professional guidelines

PubMed

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
Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
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
The assessment of risk factors for febrile seizures in children.
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

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
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
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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
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
Recent advances in febrile seizures.
Mittal R
Indian J Pediatr 2014 Sep;81(9):909-16. Epub 2014 Aug 8 doi: 10.1007/s12098-014-1532-2. PMID: 25103013
Medication errors: immunisation.
Bird S
Aust Fam Physician 2006 Sep;35(9):735-7. PMID: 16969448

Diagnosis

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
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
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
Recent advances in febrile seizures.
Mittal R
Indian J Pediatr 2014 Sep;81(9):909-16. Epub 2014 Aug 8 doi: 10.1007/s12098-014-1532-2. PMID: 25103013
Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.
Mhanni AA, Hartley JN, Sanger WG, Chudley AE, Spriggs EL
Seizure 2011 Nov;20(9):711-2. Epub 2011 Jul 19 doi: 10.1016/j.seizure.2011.06.014. PMID: 21775168
MRI evidence of mesial temporal sclerosis in sporadic "benign" temporal lobe epilepsy.
Labate A, Ventura P, Gambardella A, Le Piane E, Colosimo E, Leggio U, Ambrosio R, Condino F, Messina D, Lanza P, Aguglia U, Quattrone A
Neurology 2006 Feb 28;66(4):562-5. doi: 10.1212/01.wnl.0000198208.59347.96. PMID: 16505312

Therapy

Neurological and neurodevelopmental symptoms in children with familial Mediterranean fever and their siblings.
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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
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
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
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
Medication errors: immunisation.
Bird S
Aust Fam Physician 2006 Sep;35(9):735-7. PMID: 16969448
Fever in children.
Pearce C, Curtis N
Aust Fam Physician 2005 Sep;34(9):769-71. PMID: 16184210

Prognosis

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.
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
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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
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
Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress.
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
Fever in children.
Pearce C, Curtis N
Aust Fam Physician 2005 Sep;34(9):769-71. PMID: 16184210

Clinical prediction guides

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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
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
MRI evidence of mesial temporal sclerosis in sporadic "benign" temporal lobe epilepsy.
Labate A, Ventura P, Gambardella A, Le Piane E, Colosimo E, Leggio U, Ambrosio R, Condino F, Messina D, Lanza P, Aguglia U, Quattrone A
Neurology 2006 Feb 28;66(4):562-5. doi: 10.1212/01.wnl.0000198208.59347.96. PMID: 16505312
Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
Nakayama J, Hamano K, Iwasaki N, Nakahara S, Horigome Y, Saitoh H, Aoki T, Maki T, Kikuchi M, Migita T, Ohto T, Yokouchi Y, Tanaka R, Hasegawa M, Matsui A, Hamaguchi H, Arinami T
Hum Mol Genet 2000 Jan 1;9(1):87-91. doi: 10.1093/hmg/9.1.87. PMID: 10587582
Febrile convulsions: factors and recurrence rate.
Airede AI
Trop Geogr Med 1992 Jul;44(3):233-7. PMID: 1455528

Recent systematic reviews

Defining the Clinicoradiologic Syndrome of SARS-CoV-2 Acute Necrotizing Encephalopathy: A Systematic Review and 3 New Pediatric Cases.
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
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
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
Individualised prediction model of seizure recurrence and long-term outcomes after withdrawal of antiepileptic drugs in seizure-free patients: a systematic review and individual participant data meta-analysis.
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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