U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Seizures, benign familial infantile, 3(BFIS3)

MedGen UID:
375105
Concept ID:
C1843140
Disease or Syndrome
Synonyms: BFIS3; CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; Familial neonatal seizures
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SCN2A (2q24.3)
 
Monarch Initiative: MONDO:0011904
OMIM®: 607745
Orphanet: ORPHA140927

Definition

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). [from OMIM]

Clinical features

From HPO
Focal impaired awareness seizure
MedGen UID:
543022
Concept ID:
C0270834
Disease or Syndrome
Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.
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.
Bilateral tonic-clonic seizure with focal onset
MedGen UID:
164077
Concept ID:
C0877017
Disease or Syndrome
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral tonic-clonic phase.
Normal interictal EEG
MedGen UID:
335892
Concept ID:
C1843146
Finding
Lack of observable abnormal electroencephalographic (EEG) patterns in an individual with a history of seizures. About half of individuals with epilepsy show interictal epileptiform discharges upon the first investigation. The yield can be increased by repeated studies, sleep studies, or by ambulatory EEG recordings over 24 hours. Normal interictal EEG is a sign that can be useful in the differential diagnosis.
Neurodevelopmental abnormality
MedGen UID:
868343
Concept ID:
C4022737
Pathologic Function
A deviation from normal of the neurological development of a child, which may include any or all of the aspects of the development of personal, social, gross or fine motor, and cognitive abilities.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Cyanosis
MedGen UID:
1189
Concept ID:
C0010520
Sign or Symptom
Bluish discoloration of the skin and mucosa due to poor circulation or inadequate oxygenation of arterial or capillary blood.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Seizures, benign familial infantile, 3 in Orphanet.

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
Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067Free PMC Article
Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126

Recent clinical studies

Therapy

Kim HJ, Yang D, Kim SH, Won D, Kim HD, Lee JS, Choi JR, Lee ST, Kang HC
Brain Dev 2021 Feb;43(2):244-250. Epub 2020 Sep 8 doi: 10.1016/j.braindev.2020.08.015. PMID: 32917465
Sharpe C, Reiner GE, Davis SL, Nespeca M, Gold JJ, Rasmussen M, Kuperman R, Harbert MJ, Michelson D, Joe P, Wang S, Rismanchi N, Le NM, Mower A, Kim J, Battin MR, Lane B, Honold J, Knodel E, Arnell K, Bridge R, Lee L, Ernstrom K, Raman R, Haas RH; NEOLEV2 INVESTIGATORS
Pediatrics 2020 Jun;145(6) Epub 2020 May 8 doi: 10.1542/peds.2019-3182. PMID: 32385134Free PMC Article
Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126
Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964
Gourfinkel-An I, Baulac S, Nabbout R, Ruberg M, Baulac M, Brice A, LeGuern E
Lancet Neurol 2004 Apr;3(4):209-18. doi: 10.1016/S1474-4422(04)00706-9. PMID: 15039033

Prognosis

Ahmad SF, Ahmad KA, Ng YT
Semin Pediatr Neurol 2021 Apr;37:100880. Epub 2021 Mar 4 doi: 10.1016/j.spen.2021.100880. PMID: 33892847
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505
Pearl PL
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):186-209. doi: 10.1212/CON.0000000000000568. PMID: 29432243
Vigevano F, Specchio N, Fejerman N
Handb Clin Neurol 2013;111:591-604. doi: 10.1016/B978-0-444-52891-9.00061-0. PMID: 23622206
Plouin P, Kaminska A
Handb Clin Neurol 2013;111:467-76. doi: 10.1016/B978-0-444-52891-9.00051-8. PMID: 23622196

Clinical prediction guides

Ritter DM, Horn PS, Holland KD
Pediatr Neurol 2021 May;118:48-54. Epub 2021 Jan 27 doi: 10.1016/j.pediatrneurol.2021.01.006. PMID: 33784504Free PMC Article
Reynolds C, King MD, Gorman KM
Eur J Paediatr Neurol 2020 Jan;24:117-122. Epub 2019 Dec 12 doi: 10.1016/j.ejpn.2019.12.016. PMID: 31924505
Mishra D, Nikunj NK, Juneja M, Talukdar B
Indian Pediatr 2015 Feb;52(2):151-2. doi: 10.1007/s13312-015-0592-3. PMID: 25691188
Frenette E, Guilleminault C
Handb Clin Neurol 2013;112:857-60. doi: 10.1016/B978-0-444-52910-7.00006-4. PMID: 23622294
Jallon P, Latour P
Epilepsia 2005;46 Suppl 9:10-4. doi: 10.1111/j.1528-1167.2005.00309.x. PMID: 16302871

Recent systematic reviews

Falsaperla R, Criscione R, Cimino C, Pisani F, Ruggieri M
Neuropediatrics 2023 Oct;54(5):297-307. Epub 2023 Mar 22 doi: 10.1055/a-2060-4576. PMID: 36948217
Duffy J, Rolph R, Gale C, Hirsch M, Khan KS, Ziebland S, McManus RJ; International Collaboration to Harmonise Outcomes in Pre-eclampsia (iHOPE)
BJOG 2017 Sep;124(10):1481-1489. doi: 10.1111/1471-0528.14694. PMID: 28421657
Booth D, Evans DJ
Cochrane Database Syst Rev 2004 Oct 18;(4):CD004218. doi: 10.1002/14651858.CD004218.pub2. PMID: 15495087

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...