par Santalucia, Roberto
;Vilain, Catheline
;Soblet, Julie
;De Laet, Corinne
;Vuckovic, Aline
;König, Jörg;Aeby, Alec ![](/vufind/images/ULB/publications_list.png)
Référence Annals of clinical and translational neurology, 9, 7, page (1095-1099)
Publication Publié, 2022-11-01
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Référence Annals of clinical and translational neurology, 9, 7, page (1095-1099)
Publication Publié, 2022-11-01
Article révisé par les pairs
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. |