Ataxia and Diplopia
Author:
Affiliation:
1. From the Faculty of Medicine and Health Sciences (A.L.), McGill University; and Research Institute of the McGill University Medical Centre (K.A.M.), Montreal, Quebec, Canada.
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Genetics (clinical),Neurology (clinical)
Link
https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200085
Reference11 articles.
1. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP;Veeramah KR;Am J Hum Genet.,2012
2. Genetic and clinical features of SCN8A developmental and epileptic encephalopathy
3. Loss-of-function variants of SCN8A in intellectual disability without seizures
4. Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards S;Genet Med.,2015
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