De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants-Reference-Cited by-同舟云学术

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

Published:2018-07-28 Issue:8 Volume:176 Page:1748-1752
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet Part A

Author:

Rogers Amanda¹^ORCID,Golumbek Paul¹,Cellini Elena²,Doccini Viola²,Guerrini Renzo²,Wallgren-Pettersson Carina³,Thuresson Ann-Charlotte⁴,Gurnett Christina A.¹

Affiliation:

1. Department of Neurology; Washington University in St. Louis; St. Louis Missouri

2. Anna Meyer Children's Hospital, University of Florence; Firenze Italy

3. Department of Medical and Clinical Genetics; Folkhaelsan Institute of Genetics, University of Helsinki; Helsinki Finland

4. Science for Life Laboratory, Department of Immunology, Genetics, and Pathology; Uppsala University; Uppsala Sweden

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.38840/fullpdf

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3. New insights into the pathogenesis and therapeutics of episodic ataxia type 1;D'Adamo;Frontiers in Cellular Neuroscience,2015

4. A novel kcna1 mutation causes episodic ataxia type 1 with persistent cerebellar deficits;Demos;Neuropediatrics,2006

5. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability;Eunson;Annals of Neurology,2000

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