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benign familial infantile epilepsy (BFIC) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

benign familial infantile epilepsy

MONDO:0017615

Also known as:BFICBFIEBFIS

Overview

A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Normal interictal EEG and Neonatal seizure; and common findings: Apnea, Focal clonic seizure, Focal impaired awareness seizure, and Bilateral tonic-clonic seizure with focal onset and others. 22 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	18	Simple febrile seizure, Interictal epileptiform activity, Neonatal seizure

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for SCN8A-related epilepsy and/or neurodevelopmental disorders have been published.

Suggestive Findings

SCN8A-related epilepsy and/or neurodevelopmental disorders encompass a spectrum of phenotypes that range from mild to severe and should be considered in probands with the following clinical findings and family history.

Clinical Findings

Epilepsy features

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for benign familial infantile epilepsy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for SCN8A-related epilepsy and/or neurodevelopmental disorders have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with SCN8A-related epilepsy and/or neurodevelopmental disorders, the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 5.

Recommended Surveillance for Individuals with SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders

System/Concern | Evaluation | Frequency

Neurologic

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for benign familial infantile epilepsy.

34 publications have been identified in PubMed for benign familial infantile epilepsy. Research spans Epidemiology / Natural History (29%), Basic Science / Preclinical (26%), and Case Report / Case Series (18%).

Research Type	Count	% of Total
Disease patterns and progression	10	29%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:306

GARD

Genetic and Rare Diseases Info Center

GARD:857

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Clinical Guidance

Five different clinical phenotypes have been identified in association with pathogenic SCN8A variants. Most individuals have features that fit into one of these five phenotypes: • Developmental and epileptic encephalopathy (DEE) • Mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, also referred to as intermediate epilepsy or IE) • Self-limited familial infantile epilepsy (SeLFIE, also referred to as benign familial infantile epilepsy or BFIE) • Neurodevelopmental disorder with generalized epilepsy (NDDwGE) • Neurodevelopmental disorder without epilepsy (NDDwoE) To date, more than 500 individuals have been identified with a pathogenic variant in SCN8A [, , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders: Comparison of Phenotypes by Select Features Feature | SCN8A-Related Phenotype

DEE	Mild-to-moderate DEE	SeLFIE	NDDwGE	NDDwoE
Seizure types	Focal, multifocal, bilateral tonic-clonic, tonic, or infantile spasms	Focal, multifocal, bilateral tonic-clonic, or tonic	Focal, multifocal, bilateral tonic-clonic; may be self-limiting	Absence, bilateral tonic-clonic, or febrile
% w/epilepsy	100%	100%	100%	100%
Median age of epilepsy onset	~3 months	~5 months	~6 months	~42 months
Motor development	Delayed, often nonambulatory	Delayed	Normal	Delayed
Speech development	Delayed, often nonverbal	Delayed	Normal to mildly delayed	Delayed
Cognition	Moderate-to-severe ID	Mild-to-moderate ID	Normal to mildly delayed	Normal to severe ID (usually mild to moderate)
Other	Hypotonia, CVI, ataxia, GI symptoms	Behavioral issues, ataxia	Paroxysmal kinesigenic dyskinesia	Behavioral issues, ADHD, ASD
Most common SCN8A variant type1	GoF	GoF	GoF	LoF

Source: GeneReviews — "SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders"

System/Concern	Evaluation	Comment
Neurologic	Neurologic eval	EEG to assess EEG background, epileptiform activity, seizure type (when indicated); Baseline brain MRI, if not performed already
Ataxia	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills)
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech-language eval; Eval for early intervention/ special education Neurobehavioral/
Psychiatric	Neuropsychiatric eval	For persons age 12 mos: screening for behavioral concerns incl sleep disturbances, ADHD, anxiety, /or findings suggestive of ASD
Musculoskeletal	Orthopedics/ physical medicine rehab/ PT OT eval	To incl assessment of:; Gross motor fine motor skills; Tone abnormalities; Mobility, ADL, need for adaptive devices; Need for PT (to improve gross motor skills) /or OT (to improve fine motor skills) Gastrointestinal/
Feeding	Gastroenterology/ nutrition/ feeding team eval	To incl eval of aspiration risk nutritional status; Consider eval for gastrostomy tube placement in persons w/dysphagia /or aspiration risk.
Cardiovascular	Consider electrocardiogram or cardiology eval	To assess for cardiac arrhythmias, which have been identified in some persons w/variants of genes encoding other sodium channel subunits may risk of SUDEP.
Vision	Ophthalmologic eval	Cortical vision impairment can occur in SCN8A-DEE; assess for need for vision therapy.
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of SCN8A-related epilepsy /or neurodevelopmental disorders to facilitate medical personal decision making Family support resources

Kisho

benign familial infantile epilepsy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Sleep

SUDEP

Development

Behavioral

Musculoskeletal

Family/Community

Recent Publications

benign familial infantile epilepsy

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Neurologic

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Sleep

SUDEP

Development

Behavioral

Musculoskeletal

Family/Community

Recent Publications