Malcolmson, J., Kleyner, R., Tegay, D., Adams, W., Ward, K., Coppinger, J., Nelson, L., Meisler, M. H., Wang, K., Robison, R., Lyon, G. J. (November 2016) SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harb Mol Case Stud, 2 (6). a001073. ISSN 2373-2873
Abstract
The SCN8A gene encodes the sodium voltage-gated channel alpha subunit 8. Mutations in this gene have been associated with early infantile epileptic encephalopathy type 13. With the use of whole-exome sequencing, a de novo missense mutation in SCN8A was identified in a 4-yr-old female who initially exhibited symptoms of epilepsy at the age of 5 mo that progressed to a severe condition with very little movement, including being unable to sit or walk on her own.
| Item Type: | Paper |
|---|---|
| Uncontrolled Keywords: | absent speech action tremor appendicular hypotonia blepharospasm broad forehead bulbar palsy developmental regression developmental stagnation at onset of seizures dysphagia epileptic encephalopathy exaggerated startle response failure to thrive in infancy full cheeks gastroesophageal reflux gastrostomy tube feeding in infancy generalized tonic seizures generalized tonic-clonic seizures on awakening gingival overgrowth hypoxemia infantile axial hypotonia intellectual disability, severe neck muscle weakness no social interaction obstructive sleep apnea respiratory difficulties |
| Subjects: | bioinformatics > genomics and proteomics bioinformatics > genomics and proteomics > genetics & nucleic acid processing > DNA, RNA structure, function, modification > de novo mutation Investigative techniques and equipment > whole exome sequencing Investigative techniques and equipment > assays > whole exome sequencing |
| CSHL Authors: | |
| Communities: | CSHL labs > Lyon lab |
| Depositing User: | Matt Covey |
| Date: | November 2016 |
| Date Deposited: | 03 Mar 2017 19:53 |
| Last Modified: | 03 Mar 2017 19:53 |
| PMCID: | PMC5111007 |
| URI: | https://repository.cshl.edu/id/eprint/34143 |
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