PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia-Reference-Cited by-同舟云学术

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PRRT2 truncated mutations lead to nonsense-mediated mRNA decay in Paroxysmal Kinesigenic Dyskinesia

Published:2014-12 Issue:12 Volume:20 Page:1399-1404
ISSN:1353-8020
Container-title:Parkinsonism & Related Disorders
language:en
Short-container-title:Parkinsonism & Related Disorders

Author:

Wu Li,Tang Hui-Dong,Huang Xiao-Jun,Zheng Lan,Liu Xiao-Li,Wang Tian,Wang Jing-Yi,Cao Li,Chen Sheng-Di

Funder

National Key Program of Basic Research

Shanghai Municipal Natural Science Foundation

National Natural Science Foundation of China

Publisher

Elsevier BV

Subject

Clinical Neurology,Geriatrics and Gerontology,Neurology

Reference30 articles.

1. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria;Bruno;Neurology,2004

2. Paroxysmal dyskinesias;Bhatia;Mov Disord,2011

3. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16;Szepetowski;Am J Hum Genet,1997

4. PRRT2-related disorders: further PKD and ICCA cases and review of the literature;Becker;J Neurol,2013

5. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy;Heron;J Med Genet,2013

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1. Paroxysmal movement disorders;Handbook of Clinical Neurology;2024

2. Epilepsy Spectrum Associated with <i>PRRT2</i> Variants: Case Presentations;Archives Of Epilepsy;2023-11-22

3. Rare variants with large effects provide functional insights into the pathology of migraine subtypes, with and without aura;Nature Genetics;2023-10-26

4. Proline-rich transmembrane protein 2 knock-in mice present dopamine-dependent motor deficits;The Journal of Biochemistry;2023-10-04

5. Missense mutations in the membrane domain of PRRT2 affect its interaction with Nav1.2 voltage-gated sodium channels;Neurobiology of Disease;2023-07

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