FGF13 (fibroblast growth factor 13) - epilepsygene - Long-term Management Of Children With Epilepsy

FGF13

Gene product: Fibroblast growth factor 13.

Protein function: It plays an important role in regulating sodium channel function and neuronal excitability[1].

Phenotype: Developmental and epileptic encephalopathy (XLD, XLR) (Some can be shown as Epilepsy Of Infancy With Migrating Focal Seizures, Infantile Epileptic Spasms Syndrome, Lennox-Gastaut Syndrome) [1-2].

Mutation database: ClinVar.

Clinical and basic research: PubMed (PMID: 33245860 (Am J Hum Genet. 2021); PMID: 34871784 (Eur J Med Genet. 2022)).

Medication reminder: The overall response to anti-epileptic drugs is poor, and some children have a certain effect on ACTH (only a case report and one patient seen by the author [2], for reference only, need to be combined with epilepsy syndrome).

References:

Fry, A.E., et al., Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy. Am J Hum Genet, 2021. 108(1): p. 176-185.
Narayanan, D.L., et al., Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90. Eur J Med Genet, 2022. 65(1): p. 104403.