Self-limited infantile epilepsy

Self-limited infantile epilepsy (SeLIE), formerly known as benign infantile epilepsy or benign familial infantile seizures, is a genetic epilepsy syndrome characterized by seizures that begin in the first two years of life, typically between 3 and 20 months of age, and resolve spontaneously. The condition affects the central nervous system, specifically the brain's electrical activity, but does not cause lasting neurological damage. Children with this condition have normal development before, during, and after the seizure period, which is a hallmark feature distinguishing it from more severe infantile epilepsies. Seizures in SeLIE are typically focal (partial) in nature, often presenting as clusters of brief episodes involving motor arrest, staring, head and eye deviation, limb jerking or stiffening, and sometimes secondary generalization. Episodes may occur in clusters over several days. Interictal electroencephalography (EEG) is usually normal, though ictal recordings may show focal discharges, most commonly in the parieto-occipital or temporal regions. The familial form is most commonly associated with pathogenic variants in the PRRT2 gene (chromosome 16p11.2), though variants in SCN2A, KCNQ2, and KCNQ3 have also been identified. Inheritance is autosomal dominant with variable penetrance. Treatment with standard antiepileptic medications such as carbamazepine or valproate is generally effective in controlling seizures, though many children may not require long-term treatment as seizures typically remit by age 2 to 3 years. The prognosis is excellent, with normal psychomotor development and no increased risk of epilepsy in later life in most cases. Notably, some families with PRRT2 mutations may also have members who develop paroxysmal kinesigenic dyskinesia in later childhood or adolescence.

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