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benign familial neonatal-infantile seizures 1 (BFIC1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

benign familial neonatal-infantile seizures 1

MONDO:0042499

Also known as:BFIC1BFIS1benign familial infantile convulsions syndrome

Overview

GeneticsAutosomal dominant

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: Generalized-onset seizure, Focal impaired awareness seizure, Normal interictal EEG, and Bilateral tonic-clonic seizure with focal onset and 4 more.

Organ System	Phenotype Count	Example Features
Brain and nerves	4	Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset

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 neonatal-infantile seizures 1.

12 publications have been identified in PubMed for benign familial neonatal-infantile seizures 1. Research spans Case Report / Case Series (58%), Basic Science / Preclinical (33%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Patient case studies	7	58%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 3:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:601764

GARD

Genetic and Rare Diseases Info Center

GARD:856

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Kisho

benign familial neonatal-infantile seizures 1

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

benign familial neonatal-infantile seizures 1

Overview

Clinical Presentation

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications