Carbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy

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...

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Detalles Bibliográficos
Autores principales: Santalucia, Roberto, Vilain, Catheline, Soblet, Julie, De Laet, Corinne, Vuckovic, Aline, König, Jörg, Aeby, Alec
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Study
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268890/
https://www.ncbi.nlm.nih.gov/pubmed/35633140
http://dx.doi.org/10.1002/acn3.51581

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268890/
https://www.ncbi.nlm.nih.gov/pubmed/35633140
http://dx.doi.org/10.1002/acn3.51581

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