Genetic Epilepsy
Gene: FGF12

FGF12 (fibroblast growth factor 12)
EnsemblGeneIds (GRCh38): ENSG00000114279
EnsemblGeneIds (GRCh37): ENSG00000114279
OMIM: 601513, Gene2Phenotype
FGF12 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Developmental and epileptic encephalopathy-47 (DEE47) is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial.

Over 20 individuals reported.
Created: 18 Oct 2021, 8:26 a.m. | Last Modified: 18 Oct 2021, 8:26 a.m.

Panel Version: 0.1355

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 47, MIM# 617166

Publications

Created: 18 Oct 2021, 8:26 a.m.
Last Modified: 18 Oct 2021, 8:26 a.m.
Panel version: 0.1355

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services
Australian Genomics Health Alliance Epilepsy Flagship

Phenotypes

Developmental and epileptic encephalopathy 47, MIM# 617166

OMIM

601513

Clinvar variants

Variants in FGF12

Penetrance

None

Publications

Panels with this gene