The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 140927
Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha- subunit Na(V)1.2. Transmission is autosomal dominant.
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Source: GARD Last updated on 05-01-20
An unknown % of people have these symptoms.
Click on a symptom to see definitions for associated terms.
|Reduced coagulation factor V activity|
|Increased urinary cortisol level|
|Short third metatarsal|
|Diffuse palmoplantar keratoderma|
|Abnormality of the helix|
|Severe intrauterine growth retardation|
|Abnormality of male internal genitalia|
|Focal dermal aplasia/hypoplasia|
|Autosomal dominant inheritance|
|Focal impaired awareness seizure|
|Focal seizures, afebril|
|Generalized tonic-clonic seizures with focal onset|
|Normal interictal EEG|
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