Teaching NeuroImages: When the Teeth are the Clue to the Etiology of an Epileptic Encephalopathy
| Autor: | Marcelo Rodrigues Masruha, Victor Hugo Pantoja Leão, Marcelo de Melo Aragão, Ricardo Silva Pinho |
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| Rok vydání: | 2020 |
| Předmět: |
Pediatrics
medicine.medical_specialty Amelogenesis Imperfecta Day of life Compound heterozygosity Young Adult 03 medical and health sciences 0302 clinical medicine Intellectual disability Brain mri Humans Medicine 030212 general & internal medicine Global developmental delay Exome sequencing Epilepsy Symporters Tooth Abnormalities business.industry Epileptic encephalopathy medicine.disease Mutation Etiology Dementia Epilepsy Generalized Female Neurology (clinical) business 030217 neurology & neurosurgery |
| Zdroj: | Neurology. 96:e157-e158 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.0000000000010758 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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