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

Santalucia R, Vilain C, Soblet J, De Laet C, Vuckovic A, König J, Aeby A (2022)

Publication Type: Journal article

Publication year: 2022

Journal

Annals of Clinical and Translational Neurology Wiley

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 gene (c.1496C>T–p.Ser499Phe) and exhibiting an unusual extremely severe neonatal presentation with drug-resistant seizures and burst-suppression EEG pattern. Early carbamazepine use resulted in dramatic improvement both clinically and on EEG features. Follow-up from the neonatal period to the age of 4 years is documented. This case expands the electro-clinical phenotype associated with SLC13A5-related disease and confirms the efficacy and safety of carbamazepine in nonstructural early-onset epilepsies.

Authors with CRIS profile

Jörg König Lehrstuhl für Klinische Pharmakologie und Klinische Toxikologie

Involved external institutions

Université Catholique de Louvain (UCL) BE Belgium (BE) Université libre de Bruxelles (ULB) / Free University of Brussels BE Belgium (BE) Queen Fabiola Childrens Hospital / L'Hôpital universitaire des enfants Reine Fabiola BE Belgium (BE)

How to cite

APA:

Santalucia, R., Vilain, C., Soblet, J., De Laet, C., Vuckovic, A., König, J., & Aeby, A. (2022). Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy. Annals of Clinical and Translational Neurology. https://doi.org/10.1002/acn3.51581

MLA:

Santalucia, Roberto, et al. "Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy." Annals of Clinical and Translational Neurology (2022).

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