Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy
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DOI: 10.1002/acn3.51581
Abstract: Recessive mutations in the SLC13A5 gene encoding the sodium‐dependent citrate transporter are a recently identified cause of developmental and epileptic encephalopathy. Here, we describe a child harboring a novel homozygous loss‐of‐function mutation in the SLC13A5… read more here.
Keywords: carbamazepine efficacy; severe electro; presentation; efficacy severe ... See more keywords