Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations...
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
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Publisher
London: Nature Publishing Group UK
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Language
English
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Publisher
London: Nature Publishing Group UK
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Contents
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 multivita...
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Full title
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6856110
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6856110
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ISSN
2056-7944
E-ISSN
2056-7944
DOI
10.1038/s41525-019-0103-x
