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

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: Roberto Santalucia, Catheline Vilain, Julie Soblet, Corinne De Laet, Aline Vuckovic, Jörg König, Alec Aeby
• Journal: Annals of clinical and translational neurology (Ann Clin Transl Neurol) Vol. 9 Issue 7 Pg. 1095-1099 (07 2022) ISSN: 2328-9503 [Electronic] United States
• PMID: 35633140 (Publication Type: Case Reports, Research Support, Non-U.S. Gov't)
• Copyright: © 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.

Chemical References

• SLC13A5 protein, human
• Symporters
• Benzodiazepines
• Carbamazepine

Topics

• Benzodiazepines
• Carbamazepine (pharmacology, therapeutic use)
• Epilepsy (drug therapy, genetics)
• Humans
• Mutation
• Phenotype
• Symporters (genetics)