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

par Santalucia, Roberto ;Vilain, Catheline ;Soblet, Julie ;De Laet, Corinne ;Vuckovic, Aline ;König, Jörg;Aeby, Alec
Référence Annals of clinical and translational neurology, 9, 7, page (1095-1099)
Publication Publié, 2022-11-01

Article révisé par les pairs

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Résumé :

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.