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Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.

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Title: Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.
Authors: Ikeda M; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Kawashima A; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Kodama K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Sato R; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Uneoka S; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Katata Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Okubo Y; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Endo W; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Inui T; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Togashi N; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Mizuno C; Department of Orthopedic Surgery, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp., Yaoita H; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp., Saijo N; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp., Takayama J; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan, tohoku.ac.jp.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan, tohoku.ac.jp.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, 103-0027, Japan, riken.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp., Tamiya G; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan, tohoku.ac.jp.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan, tohoku.ac.jp.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, 103-0027, Japan, riken.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp., Kikuchi A; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp., Kure S; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp., Haginoya K; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.
Source: Case reports in medicine [Case Rep Med] 2026 Jun 22; Vol. 2026, pp. 5942985. Date of Electronic Publication: 2026 Jun 22 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Hindawi Pub. Corp Country of Publication: United States NLM ID: 101512910 Publication Model: eCollection Cited Medium: Print ISSN: 1687-9627 (Print) NLM ISO Abbreviation: Case Rep Med Subsets: PubMed not MEDLINE
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  Data: Co-Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non-Kinesigenic Dyskinesia.
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  Data: <searchLink fieldCode="AU" term="%22Ikeda+M%22">Ikeda M</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Kawashima+A%22">Kawashima A</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Kodama+K%22">Kodama K</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Sato+R%22">Sato R</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Uneoka+S%22">Uneoka S</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Katata+Y%22">Katata Y</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Okubo+Y%22">Okubo Y</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Endo+W%22">Endo W</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Inui+T%22">Inui T</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Togashi+N%22">Togashi N</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Mizuno+C%22">Mizuno C</searchLink>; Department of Orthopedic Surgery, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.<br /><searchLink fieldCode="AU" term="%22Yaoita+H%22">Yaoita H</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Saijo+N%22">Saijo N</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Takayama+J%22">Takayama J</searchLink>; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan, tohoku.ac.jp.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan, tohoku.ac.jp.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, 103-0027, Japan, riken.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Tamiya+G%22">Tamiya G</searchLink>; Department of AI and Innovative Medicine, Tohoku University Graduate School of Medicine, Sendai, 980-8575, Japan, tohoku.ac.jp.; Tohoku Medical Megabank Organization, Tohoku University, Sendai, 980-8573, Japan, tohoku.ac.jp.; Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project, Tokyo, 103-0027, Japan, riken.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Kikuchi+A%22">Kikuchi A</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Kure+S%22">Kure S</searchLink>; Department of Pediatrics, Tohoku University School of Medicine, Sendai, 980-8574, Japan, tohoku.ac.jp.; Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine, Sendai, 980-8573, Japan, tohoku.ac.jp.<br /><searchLink fieldCode="AU" term="%22Haginoya+K%22">Haginoya K</searchLink>; Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai, 989-3126, Japan, miyagi-children.or.jp.
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  Data: <searchLink fieldCode="JN" term="%22101512910%22">Case reports in medicine</searchLink> [Case Rep Med] 2026 Jun 22; Vol. 2026, pp. 5942985. <i>Date of Electronic Publication: </i>2026 Jun 22 (<i>Print Publication: </i>2026).
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