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ohtahara syndrome
(phenotype)
Summary
General Info
Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CDKL5
ARX
SCN3A
KCNQ2
ADAM22
No SNPs found
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Pathway Enrichment
Most Correlated Biogroups
NKX61_01
carboxylic acid transport
organic acid transport
GSE21927_SPLEEN_MONOCYTE_VS_GMCSF_GCSF_BONE_MARROW_UP
chloride transmembrane transport
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Curated Studies
Most Correlated Studies
OMIM - Rigidity and multifocal seizure syndrome
OMIM - Spastic tetraplegia
OMIM - Congenital disorders of glycosylation
OMIM - Epilepsy disorders
OMIM - Epilepsy
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Literature
Most Relevant Literature
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome.
Ohtahara syndrome with emphasis on recent genetic discovery.
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Paternal mosaicism of an STXBP1 mutation in OS.
Ohtahara syndrome with biotinidase deficiency.
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Clinical Trials
Most Relevant Clinical Trials
Prevention of West Syndrome With Low-dose Adrenocorticotropin Hormone (ACTH)
Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Se…
Genetics of Severe Early Onset Epilepsies
A Novel Approach to Infantile Spasms
Pilot Trial to Evaluate The Effect of Oral Methylprednisolone on Seizure Frequency in Children With …
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