ILAE Genetic Literacy Series: Self-limited familial epilepsy syndromes with onset in neonatal age and infancy.
KCNQ2
KCNQ3
PRRT2
SCN2A
SCN8A
self-limited familial epilepsy
Journal
Epileptic disorders : international epilepsy journal with videotape
ISSN: 1950-6945
Titre abrégé: Epileptic Disord
Pays: United States
ID NLM: 100891853
Informations de publication
Date de publication:
Aug 2023
Aug 2023
Historique:
revised:
13
12
2022
received:
10
10
2022
accepted:
22
12
2022
medline:
28
8
2023
pubmed:
21
3
2023
entrez:
20
3
2023
Statut:
ppublish
Résumé
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.
Types de publication
Review
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
445-453Investigateurs
Piero Perucca
(P)
J Helen Cross
(JH)
Holger Lerche
(H)
Alina I Esterhuizen
(AI)
Iscia Lopes-Cendes
(I)
Meng-Han Tsai
(MH)
Samuel F Berkovic
(SF)
Daniel H Lowenstein
(DH)
Nigel C K Tan
(NCK)
Ingo Helbig
(I)
Heather C Mefford
(HC)
Andreas Brunklaus
(A)
Gaetan Lesca
(G)
Informations de copyright
© 2023 The Authors. Epileptic Disorders published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
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