FGF12 copy number variant associated with epileptic encephalopathy

Anna Abraham; Keri Ramsey; Newell Belnap; Szabolcs Szelinger; Wayne Jepsen; Chris Balak; Meredith Sanchez-Castillo; Marcus Naymik; Anna Bonfitto; Sampathkumar Rangasamy; Semyon Kruglyak; Matthew Huentelman; Vinodh Narayanan

doi:10.1111/cge.14542

FGF12 copy number variant associated with epileptic encephalopathy

Clin Genet. 2024 Jul;106(1):114-115. doi: 10.1111/cge.14542. Epub 2024 May 8.

Authors

Anna Abraham^{1

2}, Keri Ramsey^{1

2}, Newell Belnap^{1

2}, Szabolcs Szelinger^{1

2}, Wayne Jepsen^{1

2}, Chris Balak^{1

2}, Meredith Sanchez-Castillo^{1

2}, Marcus Naymik^{1

2}, Anna Bonfitto^{1

2}, Sampathkumar Rangasamy^{1

2}, Semyon Kruglyak³, Matthew Huentelman^{1

2}, Vinodh Narayanan^{1

2}

Affiliations

¹ Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
² Neurogenomics Division, Translational Genomics Research Institute, Phoenix, Arizona, USA.
³ Element Biosciences, San Diego, California, USA.

PMID: 38715525
DOI: 10.1111/cge.14542

Abstract

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.

Keywords: CNV; FGF12; duplications; epileptic encephalopathy.

Publication types

Case Reports
Letter

MeSH terms

DNA Copy Number Variations* / genetics
Epilepsy* / genetics
Female
Fibroblast Growth Factors* / genetics
Humans
Male
Phenotype

Substances

FGF12 protein, human
Fibroblast Growth Factors

Grants and funding

TGen Foundation