Benign familial infantile epilepsy


Ion-channel gene defects are associated with a range of paroxysmal disorders, including several monogenic epilepsy syndromes. Two autosomal dominant disorders present in the first year of life: benign familial neonatal seizures, which is associated with potassium-channel gene defects; and benign familial infantile seizures, for which no genes have been identified


The diagnosis of benign infantile epilepsy with partial seizures is still difficult (Okumura et al 2000). Early diagnosis is possible only in the familial forms. In the sporadic forms with either complex partial or secondarily generalized seizures, diagnosis can be suspected in consideration of the criteria presented above, with exclusion of any possible etiologic factor


Benign outcome is an integral part of diagnosis. Children with benign infantile seizures have normal psychomotor development and do not later present other forms of epilepsy. Particularly in cases not treated pharmacologically, there can be recurrence of isolated seizures, more rarely of seizures in clusters, in the first months after onset, but later the children are seizure-free.