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Ohtahara Syndrome Gene Mutation Related Articles

Listed below are articles related to genes known to be associate with Ohtahara Syndrome. These links are from third party sites; it is not within our control at Aaron's Ohtahara Foundation whether these links remain valid; however, we will do our best to keep the page updated. If you have an article that you think should be added, please contact us.

For more information on genes associated with Ohtahara Syndrome, please visit the OMIM webpage: Early Infantile Epileptic Encephalopathy (EIEE)
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Frameshift mutations of the ARX gene in familial Ohtahara syndrome.  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice  Apr 25, 2016, 6:56 PM Aarons Ohtahara
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QBI breakthrough for rare epilepsy; Ohtahara Syndrome  Sep 8, 2016, 7:08 PM Aarons Ohtahara
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STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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Paternal mosaicism of an STXBP1 mutation in OS  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism.  Apr 30, 2016, 7:47 PM Aarons Ohtahara
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"Research on the gene responsible for intractable epileptic encephalopathy" by Naomichi Matsumoto, Professor of Graduate School of Medicine, is published online in Nature Genetics.  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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STXBP1 was historically considered the gene for Ohtahara Syndome as deletions in this gene were first discovered in this phenotype.  Apr 19, 2016, 9:57 PM Aarons Ohtahara
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Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish  Apr 19, 2016, 9:57 PM Aarons Ohtahara