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

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, w...

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Detalles Bibliográficos
Autores principales: Byrne, Alicia B., Arts, Peer, Polyak, Steven W., Feng, Jinghua, Schreiber, Andreas W., Kassahn, Karin S., Hahn, Christopher N., Mordaunt, Dylan A., Fletcher, Janice M., Lipsett, Jillian, Bratkovic, Drago, Booker, Grant W., Smith, Nicholas J., Scott, Hamish S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856110/
https://www.ncbi.nlm.nih.gov/pubmed/31754459
http://dx.doi.org/10.1038/s41525-019-0103-x

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