A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family-Reference-Cited by-同舟云学术

A novel missense variant of SCN4A co‐segregates with congenital essential tremor in a consanguineous Kurdish family

Published:2021-12-16 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Asif Maria¹²,Mocanu Ionut Dragos²,Abdullah Uzma³,Höhne Wolfgang¹,Altmüller Janine¹⁴⁵,Makhdoom Ehtisham Ul Haq¹²⁶⁷,Thiele Holger¹,Baig Shahid Mahmood⁶⁸⁹,Nürnberg Peter¹¹⁰,Graul‐Neumann Luitgard¹¹^ORCID,Hussain Muhammad Sajid¹²¹⁰^ORCID

Affiliation:

1. Cologne Center for Genomics (CCG) University of Cologne, Faculty of Medicine and University Hospital Cologne Cologne Germany

2. Center for Biochemistry, Medical Faculty University of Cologne Cologne Germany

3. University Institute of Biochemistry and Biotechnology (UIBB) PMAS‐Arid Agriculture University Rawalpindi Pakistan

4. Berlin Institute of Health at Charité—Universitätsmedizin Berlin Core Facility Genomics Berlin Germany

5. Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany

6. Human Molecular Genetics Laboratory, Health Biotechnology Division National Institute for Biotechnology and Genetic Engineering (NIBGE) College, PIEAS Faisalabad Pakistan

7. Neurochemicalbiology and Genetics Laboratory (NGL), Department of Physiology, Faculty of Life Sciences Government College University Faisalabad Pakistan

8. Pakistan Science Foundation (PSF) Islamabad Pakistan

9. Department of Biological and Biomedical Sciences Aga Khan University Karachi Pakistan

10. Center for Molecular Medicine Cologne (CMMC) University of Cologne, Faculty of Medicine and University Hospital Cologne Cologne Germany

11. Charité—Universitätsmedizin Berlin, Institut für Medizinische Genetik und Humangenetik Berlin Germany

Funder

Center for Molecular Medicine Cologne, University of Cologne

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62610

Reference28 articles.

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2. SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy;Bergareche A.;Human Molecular Genetics,2015

3. Channelopathies of skeletal muscle excitability;Cannon S. C.;Comprehensive Physiology,2015

4. Consensus statement of the Movement Disorder Society on Tremor. Ad Hoc Scientific Committee;Deuschl G.;Movement Disorders,1998

5. Essential tremor—Neurodegenerative or nondegenerative disease towards a working definition of ET;Deuschl G.;Movement Disorders,2009

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