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- Title
FGF12 copy number variant associated with epileptic encephalopathy.
- Authors
Abraham, Anna; Ramsey, Keri; Belnap, Newell; Szelinger, Szabolcs; Jepsen, Wayne; Balak, Chris; Sanchez‐Castillo, Meredith; Naymik, Marcus; Bonfitto, Anna; Rangasamy, Sampathkumar; Kruglyak, Semyon; Huentelman, Matthew; Narayanan, Vinodh
- Abstract
This article, published in Clinical Genetics, discusses a case of epileptic encephalopathy associated with a copy number variant (CNV) involving the FGF12 gene. The patient, a female, had a duplication on chromosome 3q28 and presented with normal early development followed by seizures and regression. Phenytoin was effective in controlling her seizures. The article highlights the importance of phenytoin as a treatment option for patients with similar CNVs involving the FGF12 gene. The study was funded by private donations from the TGen Foundation and the authors declare no conflict of interest.
- Subjects
DNA copy number variations; BRAIN diseases; PEOPLE with epilepsy; NEURAL stimulation; VAGUS nerve stimulation
- Publication
Clinical Genetics, 2024, Vol 106, Issue 1, p114
- ISSN
0009-9163
- Publication type
Article
- DOI
10.1111/cge.14542