Adult phenotype of the homozygous missense mutation c.655G>A, p.Gly219ArginSLC13A5: A case report

摘要

Homozygous recessive or compound heterozygous mutations inSLC13A5-gene as a cause of Early Infantile Epileptic Encephalopathy subtype 25 (OMIM 615905) were published in 2014. Previous clinical reports describe young patients, aged SLC13A5is not just a pediatric problem but may affect the patient for decades resulting in profound intellectual disability, severe motor handicap, and abnormal electroencephalography without active epilepsy. Other diagnostic hints in adults are small size, spasticity and severe abrasion due to amelogenesis imperfecta of the hypoplastic type.