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  • Updated 01.25.2024
  • Released 03.29.2001
  • Expires For CME 01.25.2027

Self-limited (familial) infantile epilepsy



Formerly called “benign infantile epilepsy,” self-limited infantile epilepsy is a syndrome characterized by the onset of seizures in the infantile period that spontaneously resolve with normal developmental progress. Self-limited familial infantile epilepsy and nonfamilial infantile epilepsy may be identical except for the presence of a family history.

Key points

• Formerly called “benign” (familial) infantile seizures or epilepsy,” the new ILAE syndrome classification name is “self-limited (familial) infantile epilepsy” (SeLIE).

• Seizure onset peaks at 6 months of age. Seizures may be frequent at onset but usually remit within 1 year from onset with normal developmental progress.

• Patients with the most common pathogenic variant, PRRT2, may develop paroxysmal kinesigenic dyskinesia/dystonia.

• Familial cases show autosomal dominant inheritance with incomplete penetrance.

Historical note and terminology

In 1963 Fukuyama described cases of epilepsy occurring in the first 2 years of life that were characterized by focal seizures, absence of etiologic factors, and good neurologic outcome (20). Later, Watanabe and colleagues reported on the localization and semiology of these seizures. Specifically, they described partial epilepsy of infancy with complex partial seizures and benign partial epilepsy with secondarily generalized seizures in infancy (58; 59; 57). Other groups documented prognosis (46), and presence or absence of familial occurrence (54; 55; 56).

Since the description of the original syndromes (familial and nonfamilial) and their categorization in the 1989 Classification of Epilepsies and Epileptic Syndromes of the International League Against Epilepsy (ILAE), other rarer related syndromes have emerged. These include “benign familial infantile seizures with choreoathetosis” (48) or paroxysmal dyskinesia (18), “benign familial neonatal-infantile seizures” (25; 24; 62), “benign familial infantile seizures with familial hemiplegic migraine” (49; 52; 35), “benign infantile seizures with mild gastroenteritis” (11), and “benign infantile focal seizures with midline spikes and wave during sleep” (19).

The terminology of these syndromes has evolved slightly over time. Vigevano and colleagues focused their attention on cases that exhibited a family history of convulsions with good neurologic outcome during infancy and autosomal dominant inheritance, suggesting the term "benign infantile familial convulsions” (54; 55; 56). In 2001, the ILAE Task Force on Classification and Terminology stated that the term "seizure" should be used preferentially over the term "convulsion" (17), a stance that has been supported by Berg and colleagues (01). Thereafter the syndromes were referred to as “benign familial infantile seizures” and “benign nonfamilial infantile seizures” (17), which are distinct syndromes with some overlapping features (33; 09). In the 2010 report of the ILAE Commission on Classification and Terminology (01), “benign infantile epilepsy” and “benign familial infantile epilepsy” have been identified and classified among the electroclinical syndromes of infancy.

In the 2021 proposed classification and definition of epilepsy syndromes in the neonate and infant, the ILAE replaced the term “benign” with “self-limited.”

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