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SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy

Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of...

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Detalles Bibliográficos
Autores principales:	Goodspeed, Kimberly, Liu, Judy S., Nye, Kimberly L., Prasad, Suyash, Sadhu, Chanchal, Tavakkoli, Fatemeh, Bilder, Deborah A., Minassian, Berge A., Bailey, Rachel M.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498415/ https://www.ncbi.nlm.nih.gov/pubmed/36140822 http://dx.doi.org/10.3390/genes13091655

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