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)

Selection	File type icon	File name	Description	Size	Revision	Time	User

	Ohtahara Gene Associations

Selection	File type icon	File name	Description	Size	Revision	Time	User
	ċ	ARX View	Frameshift mutations of the ARX gene in familial Ohtahara syndrome.			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	CDKL5 View	A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	CDKL5 comorbidities View	Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	CDKL5 knockout View	CDKL5 knockout leads to altered inhibitory transmission in the cerebellum of adult mice			Apr 25, 2016, 6:56 PM	Aarons Ohtahara
	ċ	Munc18-1 gene mutation View	QBI breakthrough for rare epilepsy; Ohtahara Syndrome			Sep 8, 2016, 7:08 PM	Aarons Ohtahara
	ċ	STXBP1 encephalopathy View	STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	STXBP1 in OS View	Paternal mosaicism of an STXBP1 mutation in OS			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	STXBP1 (MUNC18-1) View	De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.			Apr 19, 2016, 9:57 PM	Aarons Ohtahara
	ċ	STXBP1 mutation, mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism View	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
	ċ	STXBP1 Research Article View	"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
	ċ	STXBP1 Two Dimensions View	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
	ċ	STXBP1 Zebrafish View	Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish			Apr 19, 2016, 9:57 PM	Aarons Ohtahara