Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan.
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| Title: | Paroxysmal Kinesigenic Dyskinesia in Two Siblings With Novel Heterozygous TMEM151A Frameshift Variant: The First Case Report in Japan. |
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| Authors: | Kurahashi H; Department of Pediatrics, Aichi Medical University, Nagakute, Japan., Azuma Y; Department of Pediatrics, Aichi Medical University, Nagakute, Japan., Takeuchi T; Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daiichi Hospital, Nagoya, Japan., Shimada M; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan., Numoto S; Department of Child Neurology, Seirei Hamamatsu General Hospital, Hamamatsu, Japan., Nishida M; Department of Pediatrics, Aichi Medical University, Nagakute, Japan., Ito Y; Department of Pediatrics, Aichi Medical University, Nagakute, Japan., Ogi T; Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan., Okumura A; Department of Pediatrics, Aichi Medical University, Nagakute, Japan. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2025 Aug; Vol. 197 (8), pp. e64079. Date of Electronic Publication: 2025 Apr 01. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.64079 |
