Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay

Mutations in SLC25A22 are known to cause neonatal epileptic encephalopathy and migrating partial seizures in infancy. Using whole exome sequencing we identified four novel SLC25A22 mutations in six children from three families. Five patients presented clinical features similar to those in the litera...

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Detalhes bibliográficos
Publicado no:J Inherit Metab Dis
Main Authors: Reid, Emma S., Williams, Hywel, Anderson, Glenn, Benatti, Malika, Chong, Kling, James, Chela, Ocaka, Louise, Hemingway, Cheryl, Little, Daniel, Brown, Richard, Parker, Alasdair, Holden, Simon, Footitt, Emma, Rahman, Shamima, Gissen, Paul, Mills, Philippa B., Clayton, Peter T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Netherlands 2017
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5393281/
https://ncbi.nlm.nih.gov/pubmed/28255779
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-017-0025-7
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