期刊
PEDIATRIC NEUROLOGY
卷 50, 期 1, 页码 112-114出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2013.06.024
关键词
leukoencephalopathy; myoclonic; KCNT1; delayed myelination
资金
- National Institutes of Health, National Institute of Neurological Disorders and Stroke [1K08NS060695]
- Myelin Disorders Bioregistry Project
- ARC Discovery Early Career Research Award
- Institute for Molecular Bioscience core funds
- University of Queensland Foundation Research Excellence Award
- NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE [K08NS060695] Funding Source: NIH RePORTER
BACKGROUND: More than half of patients with genetic leukoencephalopathies remain without a specific diagnosis; this is particularly true in individuals with a likely primary neuronal etiology, such as those in which abnormal white matter occurs in combination with severe epilepsy. PATIENT: A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing. RESULTS: Whole exome sequencing identified a heterozygous de novo mutation in KCNT1, a sodium-gated potassium channel gene. CONCLUSIONS: Severely delayed myelination was anecdotally reported in previous patients with KCNT1 mutations. This case reinforces that KCNT1 sequencing should be included in an investigation of patients with severely delayed myelination and epilepsy.
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