Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
Author:
Publisher
Wiley
Subject
Neurology (clinical),Developmental Neuroscience,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.2012.04394.x/fullpdf
Reference10 articles.
1. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria;Bruno;Neurology,2004
2. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome;Heron;Am J Hum Genet,2012
3. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia;Chen;Nat Genet,2011
4. Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion;Dale;Neurology,2011
5. Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot;Cao;Parkinsonism Relat Disord,2012
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1. Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms;Neuroscience Bulletin;2023-12-13
2. Unraveling Abdominal Migraine in Adults: A Comprehensive Narrative Review;Cureus;2023-08-19
3. SON -Related Zhu-Tokita-Takenouchi-Kim Syndrome With Recurrent Hemiplegic Migraine;Neurology Genetics;2023-06
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5. Benign paroxysmal torticollis;Handbook of Clinical Neurology;2023
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