Genetic Epilepsy

Gene: CSF1R

Green List (high evidence)

Monoallelic disease is onset in 3rd or 4th decades whereas biallelic disease is associated with early-onset disease in infancy or childhood.

Monoallelic association:
PMID: 22197934 - 13/23 individuals from 9 different families reported to have seizures.
PMID: 24336230 - 2/7 individuals with seizures reported from a Japanese cohort.

Biallelic association:
PMID: 30982608 - Two individuals with a seizure history. First was an infant who presented with prenatal structural brain abnormalities, including ACC, ventriculomegaly, and pontocerebellar hypoplasia, and died at 10 months had intractable epilepsy. Second individuals presented with generalized tonic-clonic seizures aged 12 years old associated with regression and loss of all skills.

PMID: 30982609 - Two individuals with seizures were reported from a cohort of 7 individuals. A-III-1 was a male infant who developed seizures in early infancy (after 3 months of age). Individual C-III-4 was a male who developed focal seizures in early infancy.
Sources: Literature

Created: 17 Dec 2023, 2:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Brain abnormalities, neurodegeneration, and dysosteosclerosis, (MIM#618476)

Publications

• PMID: 22197934
• 24336230
• 30982608
• 30982609