A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis
- 12 March 2020
- journal article
- research article
- Published by Elsevier BV in Brain & Development
- Vol. 42 (6), 462-467
- https://doi.org/10.1016/j.braindev.2020.02.008
Abstract
No abstract availableKeywords
Funding Information
- Health Labour Sciences Research
This publication has 9 references indexed in Scilit:
- A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephalyJournal of Human Genetics, 2019
- CLCN2-related leukoencephalopathy: a case report and review of the literatureBMC Neurology, 2019
- 3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosomeHuman Genome Variation, 2019
- A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images – A first case of CLCN2-related leukoencephalopathy in JapanBrain & Development, 2018
- A novel homozygous change ofCLCN2(p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT)Journal of Neurology, Neurosurgery & Psychiatry, 2017
- Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical studyThe Lancet Neurology, 2013
- Restricted Diffusion in Vanishing White MatterArchives of Neurology, 2012
- Leukoencephalopathy upon Disruption of the Chloride Channel ClC-2Journal of Neuroscience, 2007
- Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathyNeurology, 2006