Journal article
The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy
Abstract
BACKGROUND: SLC13A5 related developmental and epileptic encephalopathy (DEE) is an autosomal recessive condition characterized by neonatal seizures, fever sensitivity, status epilepticus, developmental delay and tooth anomalies. The neuroimaging spectrum of SLC13A5 related DEE is not fully known. We present a case of SLC13A5 related DEE with distinct neuroimaging findings and review the neuroimaging findings of all published cases of SLC13A5 …
Authors
Whitney R; Choi E; Jones KC
Journal
Seizure, Vol. 106, , pp. 8–13
Publisher
Elsevier
Publication Date
March 2023
DOI
10.1016/j.seizure.2023.01.014
ISSN
1059-1311