Re-evaluation of PRRT2 mutations in paroxysmal disorders
Author:
Publisher
Springer Science and Business Media LLC
Subject
Clinical Neurology,Neurology
Link
http://link.springer.com/content/pdf/10.1007/s00415-014-7305-z.pdf
Reference18 articles.
1. Chen WJ, Lin Y, Xiong ZQ et al (2011) Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet 43(12):1252–1255
2. Lee HY, Huang Y, Bruneau N et al (2012) Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep 1(1):2–12
3. Heron SE, Grinton BE, Kivity S et al (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet 90(1):152–160
4. Riant F, Roze E, Barbance C et al (2012) PRRT2 mutations cause hemiplegic migraine. Neurology 79(21):2122–2124
5. Gardiner AR, Bhatia KP, Stamelou M et al (2012) PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine. Neurology 79(21):2115–2121
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1. Hemiplegic Migraine Associated With PRRT2 Variations;Neurology;2021-10-14
2. Association of an insertion mutation in PRRT2 with hereditary spastic paraplegia accompanied by polyneuropathy;Journal of Clinical Laboratory Analysis;2021-04-07
3. PRRT2 mutations in Japanese patients with benign infantile epilepsy and paroxysmal kinesigenic dyskinesia;Seizure;2019-10
4. PRRT2 mutations in a cohort of Chinese families with paroxysmal kinesigenic dyskinesia and genotype–phenotype correlation reanalysis in literatures;International Journal of Neuroscience;2018-01-07
5. Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy;European Journal of Paediatric Neurology;2016-05
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