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SLC13A5 novel compound-heterozygous variant underlies Developmental and Epileptic Encephalopathy-25 in a Chinese newborn: Case report and Literature Review

2025-11-05

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<title>Abstract</title> <p> Background Developmental and epileptic encephalopathy type 25 with enamel hypoplasia (DEE25) is a rare autosomal recessive disorder caused by mutations in <italic>SLC13A5</italic> gene. The clinical features include early-onset intractable epilepsy, global developmental delay, intellectual and psychomotor impairments, speech absence, abnormal muscle tone, progressive microcephaly, a...

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Literature Corpus work
a8127033-9f1c-59b4-a1ec-68c98e1ad61c
DOI
10.21203/rs.3.rs-7452007/v1
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SLC13A5 novel compound-heterozygous variant underlies Developmental and Epileptic Encephalopathy-25 in a Chinese newborn: Case report and Literature ReviewDOI 10.21203/rs.3.rs-7452007/v1
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