PRRT2-related phenotypes in patients with a 16p11.2 deletion-Reference-Cited by-同舟云学术

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Published:2019-04 Issue:4 Volume:62 Page:265-269
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Vlaskamp Danique R.M.^ORCID,Callenbach Petra M.C.^ORCID,Rump Patrick,Giannini Lucia A.A.,Brilstra Eva H.,Dijkhuizen Trijnie,Vos Yvonne J.,van der Kevie-Kersemaekers Anne-Marie F.^ORCID,Knijnenburg Jeroen^ORCID,de Leeuw Nicole,van Minkelen Rick,Ruivenkamp Claudia A.L.,Stegmann Alexander P.A.,Brouwer Oebele F.^ORCID,van Ravenswaaij-Arts Conny M.A.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families;Blumenthal;Am. J. Hum. Genet.,2014

2. Refinement of the chromosome 16 locus for benign familial infantile convulsions;Callenbach;Clin. Genet.,2005

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. Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study;Dale;Dev. Med. Child Neurol.,2012

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Further Delineation of the Proximal 16p11.2 Microdeletion Syndrome: Novel Findings Among 22 New Individuals;American Journal of Medical Genetics Part A;2024-09-11

2. Exploring epileptic phenotypes in PRRT2-related disorders: A report of two cases and literature appraisal;Seizure: European Journal of Epilepsy;2024-07

3. Understanding copy number variations through their genes: a molecular view on 16p11.2 deletion and duplication syndromes;Frontiers in Pharmacology;2024-06-14

4. Genetics of migraine: complexity, implications, and potential clinical applications;The Lancet Neurology;2024-04

5. Genetic Epilepsies and Developmental Epileptic Encephalopathies with Early Onset: A Multicenter Study;International Journal of Molecular Sciences;2024-01-19