Benign infantile seizures

Mary C Spiciarich MD (Dr. Spiciarich of Albert Einstein College of Medicine and Montefiore Medical Center has no relevant financial relationships to disclose.)
Jerome Engel Jr MD PhD, editor. (Dr. Engel of the David Geffen School of Medicine at the University of California, Los Angeles, has no relevant financial relationships to disclose.)
Originally released March 29, 2001; last updated June 6, 2018; expires June 6, 2021

This article includes discussion of benign infantile seizures and benign familial and nonfamilial infantile seizures. The foregoing terms may include synonyms, similar disorders, variations in usage, and abbreviations.

Overview

Benign familial and nonfamilial infantile seizures occur in the first year or 2 of life and universally remit without developmental sequelae. There are several distinct forms that overlap in presentation but are distinguishable by several clinical, neurophysiologic, and genetic factors that will be reviewed here.

Key points

 

• Benign familial infantile seizures and benign nonfamilial infantile seizures are distinct syndromes with overlapping clinical presentations.

 

• Family history, genetic studies, and at times seizure semiology and EEG can be used to distinguish these syndromes from each other, though these are often unreliable.

 

• The syndromes are characterized by seizure onset in the first year of life, remission by 2 years of life, and the absence of neurodevelopmental sequelae.

 

• Rarer subtypes have been described that are associated with choreoathetosis, familial hemiplegic migraine, or other distinct features.

Historical note and terminology

In 1963 Fukuyama described cases of epilepsy occurring in the first 2 years of life which were characterized by focal seizures, absence of etiologic factors, and benign outcome (Fukuyama 1963). 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 (Watanabe et al 1987; Watanabe et al 1990; Watanabe et al 1993). Other groups documented prognosis (Sugiura et al 1983), and presence or absence of familial occurrence (Vigevano et al 1990; Vigevano et al 1992; Vigevano et al 1994).

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 (Szepetowski et al 1997) or paroxysmal dyskinesia (Espeche et al 2011), benign familial neonatal-infantile seizures (Heron et al 2002; Herlenius et al 2007; Zara et al 2013), benign familial infantile seizures with familial hemiplegic migraine (Terwindt et al 1997; Vanmolkot et al 2003; Marini et al 2012), benign infantile seizures with mild gastroenteritis (Caraballo et al 2009), and benign infantile focal seizures with midline spikes and wave during sleep (Flesler et al 2010).

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 benign outcome during infancy and autosomal dominant inheritance, suggesting the term "benign infantile familial convulsions” (Vigevano et al 1990; Vigevano et al 1992; Vigevano et al 1994). In 2001, the ILAE Task Force on Classification and Terminology stated that the term "seizure" should be used preferentially over the term "convulsion" (Engel 2001), a stance that has been supported by Berg and colleagues (Berg et al 2010). Thereafter the syndromes were referred to as “benign familial infantile seizures” and “benign nonfamilial infantile seizures” (Engel 2001), which are distinct syndromes with some overlapping features (Lispi et al 2001; Caraballo et al 2003). In the 2010 report of the ILAE Commission on Classification and Terminology (Berg et al 2010), “benign infantile epilepsy” and “benign familial infantile epilepsy” have been identified and classified among the electroclinical syndromes of infancy.

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