Article
Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.
American journal of medical genetics. Part A - 1 Aug 2025
Kurahashi Hirokazu, Azuma Yoshiteru, Takeuchi Tomoya, Shimada Mayuko, Numoto Shingo, Nishida Mizuki, Ito Yoshinori, Ogi Tomoo, Okumura Akihisa
Abstract excerpt
Paroxysmal kinesigenic dyskinesia is a rare movement disorder that typically has a genetic basis, with PRRT2 being the primary causative gene. However, TMEM151A mutations have recently emerged as causative factors. Here, we report the cases of two Japanese siblings diagnosed with paroxysmal kinesigenic dyskinesia caused by a novel heterozygous TMEM151A frameshift variant (c.760_761insT). Case 1 was a 17-year-old...
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