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Review
. 2023 Aug;25(4):445-453.
doi: 10.1002/epd2.20026. Epub 2023 Jun 22.

ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy

Charissa Millevert  1   2 , Sarah Weckhuysen  1   2   3   4 ; ILAE Genetics Commission
Collaborators, Affiliations
Review

ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy

Charissa Millevert et al. Epileptic Disord. 2023 Aug.

Abstract

The self-limited (familial) epilepsies with onset in neonates or infants, formerly called benign familial neonatal and/or infantile epilepsies, are autosomal dominant disorders characterized by neonatal- or infantile-onset focal motor seizures and the absence of neurodevelopmental complications. Seizures tend to remit during infancy or early childhood and are therefore called "self-limited". A positive family history for epilepsy usually suggests the genetic etiology, but incomplete penetrance and de novo inheritance occur. Here, we review the phenotypic spectrum and the genetic architecture of self-limited (familial) epilepsies with onset in neonates or infants. Using an illustrative case study, we describe important clues in recognition of these syndromes, diagnostic steps including genetic testing, management, and genetic counseling.

Keywords: KCNQ2; KCNQ3; PRRT2; SCN2A; SCN8A; self-limited familial epilepsy.

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References

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