FGF12 copy number variant associated with epileptic encephalopathy.

Anna AbrahamKeri RamseyNewell BelnapSzabolcs SzelingerWayne M JepsenChris BalakMeredith Sanchez-CastilloMarcus NaymikAnna BonfittoSampathkumar RangasamySemyon KruglyakMatthew HuentelmanVinodh Narayanan

Published in: Clinical genetics (2024)

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.

Keyphrases

copy number
mitochondrial dna
genome wide
dna methylation
case report
systematic review
gene expression
randomized controlled trial