Millevert, C;
Weckhuysen, S;
Perucca, P;
Cross, JH;
Lerche, H;
Esterhuizen, AI;
Lopes-Cendes, I;
... Lesca, G; + view all
(2023)
ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
Epileptic Disorders
10.1002/epd2.20026.
(In press).
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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.
| Type: | Article |
|---|---|
| Title: | ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy |
| Location: | United States |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1002/epd2.20026 |
| Publisher version: | https://doi.org/10.1002/epd2.20026 |
| Language: | English |
| Additional information: | © 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/). |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > ICH - Directors Office |
| URI: | https://discovery-pp.ucl.ac.uk/id/eprint/10173262 |
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