DOI:
10.1055/s-00000041
Neuropediatrics
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References
Hardies K, de Kovel CG, Weckhuysen S. et al; Autosomal Recessive Working Group of the EuroEPINOMICS RES Consortium.
Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia.
Brain 2015;
138 (Pt 11): 3238-3250
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