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Heterozygous KCNJ10 Variants Affecting Kir4.1 Channel Cause Paroxysmal Kinesigenic Dyskinesia.

Autor: Huang X; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Fu X; Center for Brain Science, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Wu J; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Cheng X; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Hong X; Department of Obstetrics and Gynecology, Songjiang Hospital and Songjiang Research Institute, Shanghai Key Laboratory of Emotions and Affective Disorders, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Anatomy and Physiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Li Z; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Zheng L; Department of Neurology, Minhang Hospital, Fudan University, Shanghai, China., Liu Q; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Chen S; Department of Neurology and Institute of Neurology, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, China., Zhao Y; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Liu X; Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou, China., Li X; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China., Liu X; Department of Neurology, Shanghai Fengxian District Central Hospital, Shanghai Jiao Tong University Affiliated Sixth People's Hospital South Campus, Shanghai, China., Zhou Z; Shanghai Xunyin Biotechnology Co., Ltd., Shanghai, China., Wu L; Department of Neurology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Fang K; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Neurology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Zhong P; Department of Neurology, Suzhou Hospital of Anhui Medical University, HeFei, China., Zhang M; Department of Neurology, The First Hospital Affiliated to Anhui University of Science and Technology, HeFei, China., Luan X; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Tian W; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China., Tong X; Department of Obstetrics and Gynecology, Songjiang Hospital and Songjiang Research Institute, Shanghai Key Laboratory of Emotions and Affective Disorders, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Department of Anatomy and Physiology, Shanghai Jiao Tong University School of Medicine, Shanghai, China., Cao L; Department of Neurology, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.; Shanghai Neurological Rare Disease Biobank and Precision Diagnostic Technical Service Platform, Shanghai, China.; Department of Neurology, Suzhou Hospital of Anhui Medical University, HeFei, China.; Department of Neurology, The First Hospital Affiliated to Anhui University of Science and Technology, HeFei, China.

Publikováno v: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Oct 05. Date of Electronic Publication: 2024 Oct 05.

Spinocerebellar ataxia in the Bouvier des Ardennes breed is caused by a KCNJ10 missense variant

Autor: Kimberley Stee, Mario Van Poucke, Martí Pumarola, Lise Geerinckx, Iris Van Soens, Sofie F. M. Bhatti, Luc Peelman, Ine Cornelis

Publikováno v: Journal of Veterinary Internal Medicine, Vol 37, Iss 1, Pp 216-222 (2023)

Abstract Background In Belgian Malinois, a KCNJ10 variant causes progressive spinocerebellar degeneration. Hypothesis/Objectives Describe the clinical, diagnostic, pathological and genetic features of spinocerebellar degeneration in the Bouvier des A

Externí odkaz: https://doaj.org/article/a2a8b905578f485ba27ae8354c7b6168