ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV-Reference-Cited by-同舟云学术

ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV

Published:2019-11 Issue:10 Volume:41 Page:883-887
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Kwong Anna Ka-Yee,Chu Vanessa Loi-Yan,Rodenburg Richard J.T.,Smeitink Jan,Fung Cheuk-Wing

Funder

Society for the Relief of Disabled Children

Joshua Hellmann Foundation for Orphan Disease

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

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3. Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children;Wolf;Neurology,2002

4. STRUM: structure-based prediction of protein stability changes upon single-point mutation;Quan;Bioinformatics (Oxford, England),2016

5. Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division;Shoubridge;PathoGenetics,2010

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