The neuroimaging spectrum of SLC13A5 related developmental and epileptic encephalopathy
Seizure(2023)
摘要
•Pathogenic variants in SLC13A5 cause an autosomal recessive developmental and epileptic encephalopathy (DEE).•Neonatal seizures, fever sensitivity, status epileptics, developmental delay and tooth anomalies occur.•Neuroimaging is abnormal in one third of SLC13A5 related DEE cases.•White matter abnormalities like punctate white matter lesions appear most common.•Periventricular leukomalacia, delayed myelination, atrophy and cortical dysplasia can occur.
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关键词
SLC13A5 gene,Neuroimaging,Developmental and epileptic encephalopathy,Punctate white matter lesions,Genetics
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