- •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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