Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

Vanderver, Adeline, Simons, Cas, Schmidt, Johanna L., Pearl, Philip L., Bloom, Miriam, Lavenstein, Bennett, Miller, David, Grimmond, Sean M. and Taft, Ryan J. (2013) Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy. Pediatric Neurology, In Press, Corrected Proof 1: 1-3. doi:10.1016/j.pediatrneurol.2013.06.024

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Author Vanderver, Adeline
Simons, Cas
Schmidt, Johanna L.
Pearl, Philip L.
Bloom, Miriam
Lavenstein, Bennett
Miller, David
Grimmond, Sean M.
Taft, Ryan J.
Title Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy
Journal name Pediatric Neurology   Check publisher's open access policy
ISSN 0887-8994
1873-5150
Publication date 2013-10-10
Year available 2013
Sub-type Article (original research)
DOI 10.1016/j.pediatrneurol.2013.06.024
Open Access Status DOI
Volume In Press, Corrected Proof
Issue 1
Start page 1
End page 3
Total pages 3
Place of publication Philadelphia, PA, United States
Publisher Elsevier
Language eng
Formatted abstract
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.
Keyword Leukoencephalopathy
Myoclonic
KCNT1
Delayed myelination
Q-Index Code CX
Q-Index Status Confirmed Code
Grant ID 1K08NS060695
Institutional Status UQ
Additional Notes Available online 10 October 2013

Document type: Journal Article
Sub-type: Article (original research)
Collections: Non HERDC
Institute for Molecular Bioscience - Publications
 
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Created: Fri, 22 Nov 2013, 01:39:46 EST by Susan Allen on behalf of Institute for Molecular Bioscience