Epidemiology
- Global Reports: BFIE cases have been reported worldwide.
- Prevalence and Incidence: Remain unknown.
Clinical Description
- Age of Onset: Seizures usually occur between 3 to 8 months of life.
- Seizure Characteristics:
- Clusters of 8-10 episodes a day.
- Each episode lasts 2-5 minutes over a few days.
- Typically focal but can become generalized.
- Symptoms:
- Motor arrest, unresponsiveness, head and/or eye deviation to one side.
- Staring, fluttering of eyelids, grunting, cyanosis.
- Diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs.
- Interictal Period: Patients regain full consciousness and activity.
- Development: Psychomotor development is normal.
- Family History: A constant finding of familial epilepsy.
- Related Syndromes:
- Familial infantile convulsions and choreoathetosis (ICCA).
- Rare associations with familial or sporadic hemiplegic migraine.
Etiology
- Genetic Heterogeneity: BFIE is a genetically heterogeneous disease.
- Common Mutations:
- PRRT2 gene located at 16p11.2.
- SCN2A gene at 2q24.3.
- Rare mutations in KCNQ2 (20q13.33) and KCNQ3 (8q24).
- Other Chromosomal Loci: Identified at chromosome 19q, 16p, and 1p.
Diagnostic Methods
- Family History: Can orient the diagnosis.
- Electroencephalography (EEG):
- Ictal EEG shows partial seizures from the parietal-occipital region.
- Postictal EEG shows lateralized occipito-parietal delta waves and spikes.
- Outside the cluster, interictal EEG is normal.
- Neurological Examination and Imaging:
- Interictal neurological examination is normal.
- Brain CT and/or MRI are normal.
- Genetic Testing: Confirms the diagnosis.
Differential Diagnosis
- Similar Conditions:
- Benign familial neonatal-infantile seizures.
- Benign non-familial infantile seizures.
- Benign infantile seizures with mild gastroenteritis.
- Benign infantile focal epilepsy with midline spikes and waves during sleep (BIMSE).
Genetics
- BFIE is transmitted as an autosomal dominant trait with incomplete penetrance.
Management and Treatment
- Anti-Epileptic Treatment:
- Medications include carbamazepine, valproate, phenobarbital.
- Symptoms quickly disappear.
- Treatment can be interrupted within a few months in patients with a clear familial history.
Prognosis
- Outcome: Prognosis is good.
- Seizures: Normally disappear after the first year of life.
- Neurological Sequelae: Patients do not display any neurological sequelae.
Reference
- Online Mendelian Inheritance in Man (OMIM) Johns Hopkins University, Baltimore, MD. BENIGN FAMILIAL INFANTILE EPILEPSY; BFIE. MIM Number: 607745. 2024. Available at: https://www.omim.org/entry/607745?search=607745&highlight=607745. Accessed [4 June 2024].
Cite this: Cite this: ICNApedia contributors.Benign Familial Infantile Seizures. ICNApedia, The Child Neurology Knowledge Environment. 21 November 2024. Available at: https://icnapedia.org/knowledgebase/articles/benign-familial-infantile-seizures Accessed 21 November 2024.
