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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281/
https://www.ncbi.nlm.nih.gov/pubmed/28255779
http://dx.doi.org/10.1007/s10545-017-0025-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281/
https://www.ncbi.nlm.nih.gov/pubmed/28255779
http://dx.doi.org/10.1007/s10545-017-0025-7

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