HIGHLIGHTS
- What: The authors report a case of infantile spasm syndrome and developmental and epileptic encephalopathy (DEE) caused by a heterozygous missense variant in the RYR3 gene.
- Who: Jieling Li from the State University of Campinas, Brazil have published the research: New evidence supports RYR3 as a candidate gene for developmental and epileptic encephalopathy, in the Journal: (JOURNAL)
- Future: Since there are few known RYR3-DEE cases further studies with more samples are needed in the future.
SUMMARY
The clinical diagnosis was infantile spasm syndrome, and treatment with intravenous adrenocorticotropic_hormone . . .
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