Epilepsy and EEG Phenotype of SLC13A5 Citrate Transporter Disorder

Mutations in the SLC13A5 gene, a sodium citrate cotransporter, cause a rare autosomal recessive epilepsy (EIEE25) that begins during the neonatal period and is associated with motor and cognitive impairment. Patient’s seizure burden, semiology, and electroencephalography (EEG) findings have not been...

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Detalles Bibliográficos
Autores principales: Yang, Qian-Zhou, Spelbrink, Emily M., Nye, Kimberly L., Hsu, Emily R., Porter, Brenda E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7281881/
https://www.ncbi.nlm.nih.gov/pubmed/32551328
http://dx.doi.org/10.1177/2329048X20931361

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