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Medientyp:
E-Artikel
Titel:
ILAE Genetic Literacy Series: Self‐limited familial epilepsy syndromes with onset in neonatal age and infancy
Beteiligte:
Millevert, Charissa;
Weckhuysen, Sarah
Erschienen:
Wiley, 2023
Erschienen in:
Epileptic Disorders, 25 (2023) 4, Seite 445-453
Sprache:
Englisch
DOI:
10.1002/epd2.20026
ISSN:
1294-9361;
1950-6945
Entstehung:
Anmerkungen:
Beschreibung:
AbstractThe 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.