Familial (and non-familial) infantile epilepsy, formerly called benign familial (and non-familial) infantile seizures, is a syndrome characterized by the onset of seizures in the infantile period. Seizures are often frequent and intractable at onset but spontaneously resolve. The child is expected to have normal developmental progress. Familial and non-familial forms of infantile epilepsy are identical except for the presence of a family history. Familial cases show autosomal dominant inheritance and have genetic etiologies in common with self-limited familial neonatal and self-limited familial neonatal-infantile epilepsies, thus these epilepsy syndromes are likely related disorders.
This syndrome is characterized by the onset of seizures between 3 and 20 months of age (peak 6 months). Antecedent, birth and neonatal history is typically normal. Head size and neurological examination are normal. Seizures may be frequent at onset but usually remit within 1 year from the onset. In untreated cases there can be isolated or brief clusters of seizures within the period from onset to remission. A minority of individuals may have epilepsy in later life. Some patients (with PRRT2 mutations) may develop paroxysmal kinesiogenic dyskinesia in later life.
CAUTION Developmental delay or regression consider other infantile epilepsy syndromes.