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Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001073.

SCN8A mutation in a child presenting with seizures and developmental delays.

Author information

1
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Genetic Counseling Graduate Program, Long Island University (LIU), Brookville, New York 11548, USA.
2
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA.
3
Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.
4
Affiliated Genetics, Salt Lake City, Utah 84109, USA.
5
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan 48109-5618, USA.
6
Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA;; Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California 90089, USA;; Department of Psychiatry and Behavioral Sciences, Keck School of Medicine, University of Southern California, Los Angeles, California 90033, USA.
7
Stanley Institute for Cognitive Genomics, Cold Spring Harbor Laboratory, Cold Spring Harbor, New York 11724, USA;; Utah Foundation for Biomedical Research, Salt Lake City, Utah 84107, USA.

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.

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

PMID:
27900360
PMCID:
PMC5111007
DOI:
10.1101/mcs.a001073
[Indexed for MEDLINE]
Free PMC Article

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