Literature DB >> 21940615

Infantile convulsions and paroxysmal kinesigenic dyskinesia with 16p11.2 microdeletion.

Russell C Dale1, Padraic Grattan-Smith, Victor S C Fung, Greg B Peters.   

Abstract

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Year:  2011        PMID： 21940615     DOI： 10.1212/WNL.0b013e31823152d7

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  11 in total

1.  Mild paroxysmal kinesigenic dyskinesia caused by PRRT2 missense mutation with reduced penetrance.

Authors:  Jennifer Friedman; Jesus Olvera; Jennifer L Silhavy; Stacey B Gabriel; Joseph G Gleeson
Journal:  Neurology       Date:  2012-08-15       Impact factor: 9.910

2.  Clinical and genetic analyses of 150 patients with paroxysmal kinesigenic dyskinesia.

Authors:  Xiaoli Liu; Huiyi Ke; Xiaohang Qian; Shige Wang; Feixia Zhan; Ziyi Li; Wotu Tian; Xiaojun Huang; Bin Zhang; Li Cao
Journal:  J Neurol       Date:  2022-04-15       Impact factor: 6.682

3.  Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome.

Authors:  Axel Weber; Angelika Köhler; Andreas Hahn; Bernd Neubauer; Ulrich Müller
Journal:  Neurogenetics       Date:  2013-10-08       Impact factor: 2.660

Review 4.  Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.

Authors:  Andres Moreno-De-Luca; Scott M Myers; Thomas D Challman; Daniel Moreno-De-Luca; David W Evans; David H Ledbetter
Journal:  Lancet Neurol       Date:  2013-03-18       Impact factor: 44.182

5.  A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.

Authors:  Flore Zufferey; Elliott H Sherr; Noam D Beckmann; Ellen Hanson; Anne M Maillard; Loyse Hippolyte; Aurélien Macé; Carina Ferrari; Zoltán Kutalik; Joris Andrieux; Elizabeth Aylward; Mandy Barker; Raphael Bernier; Sonia Bouquillon; Philippe Conus; Bruno Delobel; W Andrew Faucett; Robin P Goin-Kochel; Ellen Grant; Louise Harewood; Jill V Hunter; Sébastien Lebon; David H Ledbetter; Christa Lese Martin; Katrin Männik; Danielle Martinet; Pratik Mukherjee; Melissa B Ramocki; Sarah J Spence; Kyle J Steinman; Jennifer Tjernagel; John E Spiro; Alexandre Reymond; Jacques S Beckmann; Wendy K Chung; Sébastien Jacquemont
Journal:  J Med Genet       Date:  2012-10       Impact factor: 6.318

6.  Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.

Authors:  Jingyun Li; Xilin Zhu; Xin Wang; Wei Sun; Bing Feng; Te Du; Bei Sun; Fenghe Niu; Hua Wei; Xiaopan Wu; Lei Dong; Liping Li; Xingqiu Cai; Yuping Wang; Ying Liu
Journal:  J Med Genet       Date:  2011-11-30       Impact factor: 6.318

7.  Paroxysmal kinesigenic dyskinesia caused by 16p11.2 microdeletion.

Authors:  Pichet Termsarasab; Amy C Yang; Jennifer Reiner; Hui Mei; Stuart A Scott; Steven J Frucht
Journal:  Tremor Other Hyperkinet Mov (N Y)       Date:  2014-11-17

8.  PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine.

Authors:  Alice R Gardiner; Kailash P Bhatia; Maria Stamelou; Russell C Dale; Manju A Kurian; Susanne A Schneider; G M Wali; Tim Counihan; Anthony H Schapira; Sian D Spacey; Enza-Maria Valente; Laura Silveira-Moriyama; Hélio A G Teive; Salmo Raskin; Josemir W Sander; Andrew Lees; Tom Warner; Dimitri M Kullmann; Nicholas W Wood; Michael Hanna; Henry Houlden
Journal:  Neurology       Date:  2012-10-17       Impact factor: 9.910

9.  Modulation of mu attenuation to social stimuli in children and adults with 16p11.2 deletions and duplications.

Authors:  Caitlin M Hudac; Anna Kresse; Benjamin Aaronson; Trent D DesChamps; Sara Jane Webb; Raphael A Bernier
Journal:  J Neurodev Disord       Date:  2015-07-24       Impact factor: 4.025

10.  16p11.2 deletion in patients with paroxysmal kinesigenic dyskinesia but without intellectual disability.

Authors:  Wen Li; Yifan Wang; Bin Li; Bin Tang; Hui Sun; Jinxing Lai; Na He; Bingmei Li; Heng Meng; Weiping Liao; Xiaorong Liu
Journal:  Brain Behav       Date:  2018-10-11       Impact factor: 2.708
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