Features include very common findings: Focal-onset seizure; and common findings: Bilateral tonic-clonic seizure, Hypsarrhythmia, Severe global developmental delay, and Autistic behavior and others. 20 total HPO annotations.

FGF13 encodes fibroblast growth factor 13 (245 aa). Microtubule-binding protein which directly binds tubulin and is involved in both polymerization and stabilization of microtubules. Highest expression in Brain Frontal Cortex BA9 (9.7 TPM) and Brain Nucleus accumbens basal ganglia (8.9 TPM).

Developmental and epileptic encephalopathy, 90 is associated with mutations in the FGF13 gene on chromosome X.

FGF13 is classified as a druggable target (Growth Factor category) with score 5.2.

Genetic testing for FGF13 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 very common feature, 6 common features.

No clinical trials have been registered for developmental and epileptic encephalopathy, 90.

4 publications have been identified in PubMed for developmental and epileptic encephalopathy, 90. Research spans Basic Science / Preclinical (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

• Yang L (2025). [PMID: 39737842](https://pubmed.ncbi.nlm.nih.gov/39737842/). *Ann Clin Transl Neurol*. [Case Report / Case Series]

• Lin S (2025). [PMID: 39773461](https://pubmed.ncbi.nlm.nih.gov/39773461/). *Elife*. [Basic Science / Preclinical]

• Steyaert W (2025). [PMID: 40138663](https://pubmed.ncbi.nlm.nih.gov/40138663/). *Genome Res*. [Basic Science / Preclinical]

• Mei D (2024). [PMID: 39613335](https://pubmed.ncbi.nlm.nih.gov/39613335/). *J Med Genet*. [Epidemiology / Natural History]