Scientific Article
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Recognizing and Treating Catatonia in Kleefstra Syndrome
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Miriam Vail, Jonathan Newgren, Isabelle Bindseil, Danielle Stutzman, Elizabeth Margolis
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Sep 30, 2025
Kleefstra syndrome is an extremely rare genetic disorder linked to EHMT1 mutations and multiple psychiatric or behavioral issues, including catatonia. This case reports a 17-year-old male with Kleefstra syndrome whose catatonia was successfully treated with scheduled lorazepam, highlighting the need for better recognition and treatment.
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