A genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.
Comprehensive, easy-to-understand information about this condition
How we create this content →Documentation for benign familial infantile epilepsy is limited primarily due to its rarity and the lack of systematic clinical studies. As this condition affects a small population, comprehensive research has been challenging. Additionally, the absence of identified genes and established inheritance patterns complicates the clinical characterization and understanding of the condition, leading to gaps in available information.
The clinical presentation of benign familial infantile epilepsy includes a variety of seizure types. Most commonly, infants may experience focal clonic seizures (30-79%), bilateral tonic-clonic seizures with focal onset (30-79%), and generalized tonic seizures (30-79%). Other notable features include apnea (30-79%) and focal impaired awareness seizures (30-79%). Despite the occurrence of these seizures, the interictal EEG remains largely normal, which is a significant characteristic of this condition.
To navigate your care for benign familial infantile epilepsy, consider consulting a pediatric neurologist with experience in epilepsy syndromes. They can provide specialized insights and management strategies tailored to your child's needs. Additionally, while there are currently no specific patient organizations, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable support and information. Engaging in clinical trials may also offer opportunities for further understanding and management of the condition.
Currently, there are no orphan drug designations for benign familial infantile epilepsy. However, there is one active clinical trial that may provide insights into the condition and potential treatment options. For more information on this trial, you can visit ClinicalTrials.gov and search for 'benign familial infantile epilepsy' at https://clinicaltrials.gov/search?cond=benign%20familial%20infantile%20epilepsy. Participation in clinical trials can be a valuable opportunity for patients seeking more information and potential treatment avenues.
Actionable guidance for navigating care for benign familial infantile epilepsy
To navigate your care for benign familial infantile epilepsy, consider consulting a pediatric neurologist with experience in epilepsy syndromes. They can provide specialized insights and management strategies tailored to your child's needs. Additionally, while there are currently no specific patient organizations, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable support and information. Engaging in clinical trials may also offer opportunities for further understanding and management of the condition.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 7, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.