SLC13A5 novel compound-heterozygous variant underlies Developmental and Epileptic Encephalopathy-25 in a Chinese newborn: Case report and Literature Review
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Background Developmental and epileptic encephalopathy type 25 with enamel hypoplasia (DEE25) is a rare autosomal recessive disorder caused by mutations in SLC13A5 gene. The clinical features include early-onset intractable epilepsy, global developmental delay, intellectual and psychomotor impairments, speech absence, abnormal muscle tone, progressive microcephaly, and dental hypoplasia. Over 150 patients with a total of 55 distinct identified variants have been reported by now. Case report: A 9-day-old male neonate, presented with seizures on the 8th day after birth, characterized by focal clonic seizures and status epilepticus, and electroencephalography revealed burst-suppression patterns during severe episodes. Combined of antiepileptic drug was prescribed for controlling the symptoms. Whole-exome sequencing identified a novel compound heterozygous mutation in the SLC13A5 gene: c.1059_1062delinsA (paternally inherited) and c.643G > A (maternally inherited). Conclusion The novel compound heterozygous mutation in the SLC13A5 gene we reported here was responsible for the refractory epilepsy in the early neonatal period. This study enriches the clinical phenotypic and genotypic spectrum of this disease.
