ArticleNeurogenetics2013
Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.
Article in Neurogenetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 36 citations in OpenAlex.
- Article
- The pleiotropic spectrum of proximal 16p11.2 CNVs.American journal of human genetics · 2024Review
- Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.Journal of neurology · 2022Article
- [Clinical phenotype and genetic features of 16p11.2 microdeletion-related epilepsy in children].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Paroxysmal Kinesigenic Dyskinesia Caused by 16p11.2 Microdeletion and Related Clinical Features.Neurology. Genetics · 2022Article
- Recommendations for the diagnosis and treatment of paroxysmal kinesigenic dyskinesia: an expert consensus in China.Translational neurodegeneration · 2021Review
- The Spectrum ofFrontiers in neurology · 2021Review
- The Genotype and Phenotype of Proline-Rich Transmembrane Protein 2 Associated Disorders in Chinese Children.Frontiers in pediatrics · 2021Article
- Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.International journal of molecular sciences · 2020Review
- Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy.Brain and behavior · 2020Article
- 16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.Brain and behavior · 2018Article
- Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family.BMC medical genetics · 2016Article
- Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.Tremor and other hyperkinetic movements (New York, N.Y.) · 2014Article
- The effects of aging on the BTBR mouse model of autism spectrum disorder.Frontiers in aging neuroscience · 2014Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is caused by mutations in the gene PRRT2 located in 16p11.2. A deletion syndrome 16p11.2 is well established and is characterized by intellectual disability, speech delay, and autism. PKD/IC, however, is extremely rare in this syndrome. We describe a case of PKD/IC and 16p11.2 deletion syndrome and discuss modifiers of PRRT2 activity to explain the rare concurrence of both syndromes.
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