FGF12 copy number variant associated with epileptic encephalopathy.
CNV
FGF12
duplications
epileptic encephalopathy
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
08 May 2024
08 May 2024
Historique:
revised:
23
04
2024
received:
02
04
2024
accepted:
25
04
2024
medline:
8
5
2024
pubmed:
8
5
2024
entrez:
8
5
2024
Statut:
aheadofprint
Résumé
FGF12 related epilepsy presents with variable phenotypes. We report another patient with a duplication involving the FGF12 gene who presented similar to other published cases having normal early development and responded to phenytoin.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : TGen Foundation
Informations de copyright
© 2024 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
Shi RM, Kobayashi T, Kikuchi A, et al. Phenytoin‐responsive epileptic encephalopathy with a tandem duplication involving FGF12. Neurol Genet. 2017;3:e133.
Oda Y, Uchiyama Y, Motomura A, et al. Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome. J Hum Genet. 2019;64:1005‐1014.
Verheyen S, Speicher MR, Ramler B, Plecko B. Childhood‐onset epileptic encephalopathy due to FGF12 exon 1–4 tandem duplication. Neurol Genet. 2020;6:e494. doi:10.1212/NXG.0000000000000494
Willemsen MH, Goel H, Verhoeven JS, et al. Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12. Epilepsia Open. 2020;5:301‐306.
Seiffert S, Pendziwiat M, Bierhals T, et al. Modulating effects of FGF12 variants on NaV12 and NaV16 being associated with developmental and epileptic encephalopathy and autism spectrum disorder: a case series. eBioMedicine. 2022;83:104234. doi:10.1016/j.ebiom.2022.104234