Extending the use of stiripentol to SLC13A5-related epileptic encephalopathy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health
Reference13 articles.
1. Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life;Thevenon;Am J Hum Genet,2014
2. Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia;Hardies;Brain,2015
3. Mutations in the Na+/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay;Klotz;Mol Med,2016
4. Plasma membrane Na+-coupled citrate transporter (SLC13A5) and neonatal epileptic encephalopathy;Bhutia;Molecules,2017
5. Disease heterogeneity in Na+/citrate cotransporter deficiency;Anselm;JIMD Rep,2017
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1. Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant;Acta Neurologica Belgica;2024-08-15
2. The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy;Seizure;2023-03
3. Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature;Frontiers in Pediatrics;2023-02-27
4. SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy;Genes;2022-09-15
5. Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy;Annals of Clinical and Translational Neurology;2022-05-28
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