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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. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	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.

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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.

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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.

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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.

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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.

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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.

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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.

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Abnormality of the integument
- Cyanosis
Abnormality of the nervous system
Abnormality of the respiratory system
- Apnea

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Benign familial infantile epilepsy
- CROGVSeizures, benign familial infantile, 2
- CROGVSeizures, benign familial infantile, 3
- CROGVSeizures, benign familial infantile, 4
- CROGVSeizures, benign familial infantile, 5

Benign partial infantile seizures
- Benign familial infantile epilepsy
  - Seizures, benign familial infantile, 3

Follow this link to review classifications for Seizures, benign familial infantile, 3 in Orphanet.

Professional guidelines

PubMed

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

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067 Free PMC Article

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.

Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126

See all (20)

Recent clinical studies

Etiology

Neonatal Epileptic Encephalopathies.

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

The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.

Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM, Yamamoto H, Zuberi SM
Epilepsia 2021 Mar;62(3):615-628. Epub 2021 Feb 1 doi: 10.1111/epi.16815. PMID: 33522601

Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.

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: 32385134 Free PMC Article

The phenotypic spectrum of SCN2A-related epilepsy.

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

Neonatal epilepsy genetics.

Axeen EJT, Olson HE
Semin Fetal Neonatal Med 2018 Jun;23(3):197-203. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.003. PMID: 29426807

See all (146)

Diagnosis

Epilepsy Syndromes in the First Year of Life and Usefulness of Genetic Testing for Precision Therapy.

Bayat A, Bayat M, Rubboli G, Møller RS
Genes (Basel) 2021 Jul 8;12(7) doi: 10.3390/genes12071051. PMID: 34356067 Free PMC Article

Neonatal Epileptic Encephalopathies.

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

The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures.

Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.

Neonatal epilepsy genetics.

Axeen EJT, Olson HE
Semin Fetal Neonatal Med 2018 Jun;23(3):197-203. Epub 2018 Jan 31 doi: 10.1016/j.siny.2018.01.003. PMID: 29426807

See all (247)

Therapy

Clinical characteristics of KCNQ2 encephalopathy.

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

Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial.

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.

Wolff M, Brunklaus A, Zuberi SM
Epilepsia 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126

Animal models.

Coppola A, Moshé SL
Handb Clin Neurol 2012;107:63-98. doi: 10.1016/B978-0-444-52898-8.00004-5. PMID: 22938964

Monogenic idiopathic epilepsies.

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

See all (80)

Prognosis

Neonatal Epileptic Encephalopathies.

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

The phenotypic spectrum of SCN2A-related epilepsy.

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

Epilepsy Syndromes in Childhood.

Pearl PL
Continuum (Minneap Minn) 2018 Feb;24(1, Child Neurology):186-209. doi: 10.1212/CON.0000000000000568. PMID: 29432243

Idiopathic focal epilepsies.

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

Neonatal seizures.

Plouin P, Kaminska A
Handb Clin Neurol 2013;111:467-76. doi: 10.1016/B978-0-444-52891-9.00051-8. PMID: 23622196

See all (155)

Clinical prediction guides

In Silico Predictions of KCNQ Variant Pathogenicity in Epilepsy.

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: 33784504 Free PMC Article

The phenotypic spectrum of SCN2A-related epilepsy.

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

Benign infantile seizures.

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

Nonepileptic paroxysmal sleep disorders.

Frenette E, Guilleminault C
Handb Clin Neurol 2013;112:857-60. doi: 10.1016/B978-0-444-52910-7.00006-4. PMID: 23622294

Epidemiology of idiopathic generalized epilepsies.

Jallon P, Latour P
Epilepsia 2005;46 Suppl 9:10-4. doi: 10.1111/j.1528-1167.2005.00309.x. PMID: 16302871

See all (125)

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

Core outcome sets in women's and newborn health: a systematic review.

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

Anticonvulsants for neonates with seizures.

Booth D, Evans DJ
Cochrane Database Syst Rev 2004 Oct 18;(4):CD004218. doi: 10.1002/14651858.CD004218.pub2. PMID: 15495087

See all (3)

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Seizures, benign familial infantile, 3(BFIS3)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

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