Associated Papers
Unraveling neuroimaging insights in developmental epileptic encephalopathy type 25: a comprehensive review of reported cases and a novel SLC13A5 variant.
Mohammadi MF et al.
Acta Neurologica Belgica, 2024
Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy.
Alsemari A et al.
Pediatric Neurology, 2024
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.
Schossig A et al.
Journal of Medical Genetics, 2017
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