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FGF12 copy number variant associated with epileptic encephalopathy

Anna Abraham1,2, Keri Ramsey1,2, Newell Belnap1,2

  • 1Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.

Clinical Genetics
|May 8, 2024
PubMed

Insights

Fibroblast growth factor 12 (FGF12) related epilepsy shows varied symptoms. A patient with FGF12 gene duplication had typical development and improved with phenytoin treatment.

Area of Science:

  • Genetics
  • Neurology
  • Epilepsy Research

Background:

  • Epilepsy is a neurological disorder characterized by recurrent seizures.
  • Genetic factors play a significant role in the etiology of various epilepsy syndromes.
  • Fibroblast growth factor 12 (FGF12) has been implicated in certain forms of epilepsy.

Observation:

  • This report details a patient with a duplication involving the FGF12 gene.
  • The patient exhibited a phenotype consistent with previously described cases of FGF12-related epilepsy.
  • Early developmental milestones were within the normal range for this patient.

Findings:

  • The patient's epilepsy presentation was typical for FGF12 gene involvement.
  • Phenotypic variability in FGF12 related epilepsy is noted.
  • The patient demonstrated a positive response to phenytoin therapy.

Implications:

  • This case contributes to the understanding of FGF12 related epilepsy phenotypes.
  • It highlights the potential efficacy of phenytoin in managing this specific epilepsy subtype.
  • Further research into FGF12's role in neurodevelopment and epilepsy is warranted.

Keywords:
CNVFGF12duplicationsepileptic encephalopathy

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