Teaching NeuroImages: When the Teeth are the Clue to the Etiology of an Epileptic Encephalopathy

A 24-year-old woman with severe intellectual disability presented with refractory epilepsy since the first day of life. She had global developmental delay and remarkable abnormalities in both primary and secondary teeth (figure). Brain MRI was normal. A whole exome sequencing revealed SLC13A5 compound heterozygous mutations C>T at chr17:6.606.350, p.Gly219Arg, and G>A at chr17:6.590.909, p.Pro505Leu.

Automated summary

A 24-year-old woman with severe intellectual disability presented with refractory epilepsy since birth, along with global developmental delay and abnormalities in both primary and secondary teeth. Whole exome sequencing revealed compound heterozygous mutations in SLC13A5.