Article
Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
Annals of clinical and translational neurology - 1 Jul 2022
Santalucia Roberto, Vilain Catheline, Soblet Julie, De Laet Corinne, Vuckovic Aline, König Jörg, Aeby Alec
Abstract excerpt
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 gene (c.1496C>T-p.Ser499Phe) and exhibiting an unusual extremely severe neonatal presentation with drug-resistant seizures and burst-suppression EEG...
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