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Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6

14 Nov 2019

Abstract excerpt

Abstract We describe a sibling pair displaying an early infantile-onset, progressive neurodegenerative phenotype, with symptoms of developmental delay and epileptic encephalopathy developing from 12 to 14 months of age. Using whole exome sequencing, compound heterozygous variants were identified in SLC5A6 , which encodes the sodium-dependent multivitamin transporter (SMVT) protein. SMVT is an important...

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PMID: 31754459
DOI: 10.1038/s41525-019-0103-x

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