Literature DB >> 36118511

Early-Onset Neurodevelopmental Movement Disorder Secondary to Novel Mutation in KCNN2.

Conor Fearon1, Talyta Cortez Grippe1, Robert Chen1, Anthony E Lang1.   

Abstract

Entities:  

Keywords:  KCNN2; myoclonus‐dystonia; tremor

Year:  2022        PMID： 36118511      PMCID： PMC9464988          DOI： 10.1002/mdc3.13535

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  12 in total

1.  The frissonnant mutant mouse, a model of dopamino-sensitive, inherited motor syndrome.

Authors:  N Callizot; J L Guénet; C Baillet; J M Warter; P Poindron
Journal:  Neurobiol Dis       Date:  2001-06       Impact factor: 5.996

2.  Interpretation of genetic testing: variants of unknown significance.

Authors:  Brent L Fogel
Journal:  Continuum (Minneap Minn)       Date:  2011-04

3.  Movement Disorders in Children.

Authors:  Toni S Pearson; Roser Pons
Journal:  Continuum (Minneap Minn)       Date:  2019-08

4.  Diagnostic yield of next-generation sequencing applied to neurological disorders.

Authors:  Cláudia Marques Matos; Isabel Alonso; Miguel Leão
Journal:  J Clin Neurosci       Date:  2019-07-02       Impact factor: 1.961

5.  A human protein atlas for normal and cancer tissues based on antibody proteomics.

Authors:  Mathias Uhlén; Erik Björling; Charlotta Agaton; Cristina Al-Khalili Szigyarto; Bahram Amini; Elisabet Andersen; Ann-Catrin Andersson; Pia Angelidou; Anna Asplund; Caroline Asplund; Lisa Berglund; Kristina Bergström; Harry Brumer; Dijana Cerjan; Marica Ekström; Adila Elobeid; Cecilia Eriksson; Linn Fagerberg; Ronny Falk; Jenny Fall; Mattias Forsberg; Marcus Gry Björklund; Kristoffer Gumbel; Asif Halimi; Inga Hallin; Carl Hamsten; Marianne Hansson; My Hedhammar; Görel Hercules; Caroline Kampf; Karin Larsson; Mats Lindskog; Wald Lodewyckx; Jan Lund; Joakim Lundeberg; Kristina Magnusson; Erik Malm; Peter Nilsson; Jenny Odling; Per Oksvold; Ingmarie Olsson; Emma Oster; Jenny Ottosson; Linda Paavilainen; Anja Persson; Rebecca Rimini; Johan Rockberg; Marcus Runeson; Asa Sivertsson; Anna Sköllermo; Johanna Steen; Maria Stenvall; Fredrik Sterky; Sara Strömberg; Mårten Sundberg; Hanna Tegel; Samuel Tourle; Eva Wahlund; Annelie Waldén; Jinghong Wan; Henrik Wernérus; Joakim Westberg; Kenneth Wester; Ulla Wrethagen; Lan Lan Xu; Sophia Hober; Fredrik Pontén
Journal:  Mol Cell Proteomics       Date:  2005-08-27       Impact factor: 5.911

6.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

Review 7.  Genetic mimics of cerebral palsy.

Authors:  Toni S Pearson; Roser Pons; Roula Ghaoui; Carolyn M Sue
Journal:  Mov Disord       Date:  2019-03-26       Impact factor: 10.338

8.  Electrophysiological features of myoclonus-dystonia.

Authors:  Jie-Yuan Li; Danny I Cunic; Guillermo Paradiso; Carolyn Gunraj; Pramod K Pal; Anthony E Lang; Robert Chen
Journal:  Mov Disord       Date:  2008-10-30       Impact factor: 10.338

9.  KCNN2 mutation in autosomal-dominant tremulous myoclonus-dystonia.

Authors:  B Balint; R Guerreiro; S Carmona; N Dehghani; A Latorre; C Cordivari; K P Bhatia; J Bras
Journal:  Eur J Neurol       Date:  2020-05-03       Impact factor: 6.089

10.  Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders.

Authors:  Fanny Mochel; Agnès Rastetter; Berten Ceulemans; Konrad Platzer; Sandra Yang; Deepali N Shinde; Katherine L Helbig; Diego Lopergolo; Francesca Mari; Alessandra Renieri; Elisa Benetti; Roberto Canitano; Quinten Waisfisz; Astrid S Plomp; Sylvia A Huisman; Golder N Wilson; Sara S Cathey; Raymond J Louie; Daniela Del Gaudio; Darrel Waggoner; Shawn Kacker; Kimberly M Nugent; Elizabeth R Roeder; Ange-Line Bruel; Julien Thevenon; Nadja Ehmke; Denise Horn; Manuel Holtgrewe; Frank J Kaiser; Susanne B Kamphausen; Rami Abou Jamra; Sarah Weckhuysen; Carine Dalle; Christel Depienne
Journal:  Brain       Date:  2020-12-01       Impact factor: 13.501
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