Open AccessCarbamazepine efficacy in a severe electro‐clinical presentation of SLC13A5 ‐epilepsy
Author(s) -
Santalucia Roberto,
Vilain Catheline,
Soblet Julie,
De Laet Corinne,
Vuckovic Aline,
König Jörg,
Aeby Alec
Publication year - 2022
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.51581
Subject(s) - carbamazepine , medicine , epilepsy , encephalopathy , vigabatrin , phenotype , presentation (obstetrics) , drug resistant epilepsy , drug , electroencephalography , pediatrics , pharmacology , anticonvulsant , gene , bioinformatics , genetics , surgery , biology , psychiatry
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.