Carbamazepine efficacy in a severe electro-clinical presentation of SLC13A5-epilepsy.
Ann Clin Transl Neurol
; 9(7): 1095-1099, 2022 07.
Article
en En
| MEDLINE
| ID: mdl-35633140
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Simportadores
/
Epilepsia
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Ann Clin Transl Neurol
Año:
2022
Tipo del documento:
Article
País de afiliación:
Bélgica