Genetic Epilepsy

Gene: SLC13A5

Green List (high evidence)

At least 7 unrelated families reported.

Created: 16 Jun 2021, 9:42 a.m. | Last Modified: 16 Jun 2021, 9:42 a.m.

Panel Version: 0.8037

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905; MONDO:0014392

Publications

• 24995870
• 26384929

Green List (high evidence)

PMID: 24995870
Compound heterozygous and homozygous variants identified in three independent families with subclinical seizures as early as the first day of life, severe epileptic disease, and profound developmental delay with no facial dysmorphism. Subject 4 reported with hypodontia.

PMID: 26384929
Eight additional patients belonging to four different families with autosomal recessive mutations in SLC13A5, all of the reported patients were noted to have teeth hypoplasia and/or hypodontia.

Created: 16 Jun 2021, 12:59 a.m. | Last Modified: 16 Jun 2021, 12:59 a.m.

Panel Version: 0.1117

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905

Publications

• PMID: 24995870
• 26384929