MCID: OHT001
MIFTS: 23

Ohtahara Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Ohtahara Syndrome

MalaCards integrated aliases for Ohtahara Syndrome:

Name: Ohtahara Syndrome 55

Classifications:



Summaries for Ohtahara Syndrome

NINDS : 55 Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays.  The disorder affects infants, usually within the first three months of life (most often within the first 10 days) in the form of epileptic seizures. Infants have primarily tonic seizures (stiffening of the muscles, upward eye gaze, dilated pupils, and altered breathing), but may also experience focal seizures (involving only one area or side of the brain), and rarely, myoclonic seizures (involving sudden muscle jerks). Ohtahara syndrome is classically caused by very abnormal brain structure that may be due to damage or abnormal development.  It also can be due to metabolic disorders or genetic epilepsy syndromes, although the cause or causes for many cases can’t be determined. Recent studies suggest that there is often an identifiable genetic cause of Ohtahara syndrome. Electroencephalography recordings of brain activity of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage abnormal brain activity alternating with periods of very little activity.  This pattern is known as “burst suppression.”

MalaCards based summary : Ohtahara Syndrome is related to early infantile epileptic encephalopathy and encephalopathy. An important gene associated with Ohtahara Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Neurotransmitter Release Cycle and Neuroscience. Affiliated tissues include brain and eye.

Wikipedia : 77 Ohtahara syndrome (OS), is a progressive epileptic encephalopathy. The syndrome is outwardly... more...

Related Diseases for Ohtahara Syndrome

Graphical network of the top 20 diseases related to Ohtahara Syndrome:



Diseases related to Ohtahara Syndrome

Symptoms & Phenotypes for Ohtahara Syndrome

Drugs & Therapeutics for Ohtahara Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Examining the Efficacy of tDCS in the Attenuation of Epileptic Paroxysmal Discharges and Clinical Seizures Completed NCT02960347 Phase 2, Phase 3
2 Neuronal Excitability of HCN1 Channel Mutations in Dravet Syndrome Recruiting NCT02896608
3 Genetics of Severe Early Onset Epilepsies Recruiting NCT01858285

Search NIH Clinical Center for Ohtahara Syndrome

Genetic Tests for Ohtahara Syndrome

Anatomical Context for Ohtahara Syndrome

MalaCards organs/tissues related to Ohtahara Syndrome:

42
Brain, Eye

Publications for Ohtahara Syndrome

Articles related to Ohtahara Syndrome:

(show top 50) (show all 57)
# Title Authors Year
1
Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome. ( 29217410 )
2018
2
Ictal PET in Ohtahara Syndrome With Hemimegalencephaly. ( 28195914 )
2017
3
KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome. ( 28065823 )
2017
4
Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome. ( 25631041 )
2016
5
Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A. ( 27781028 )
2016
6
Heterozygous STXBP1 Mutations Associated With Ohtahara Syndrome: Two Littles Make a Lot. ( 27799865 )
2016
7
Early modified functional hemispherectomy in a young infant with Ohtahara syndrome and hemimegalencephaly. ( 25028415 )
2015
8
Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma. ( 26167232 )
2015
9
Brain ketones detected by proton magnetic resonance spectroscopy in an infant with Ohtahara syndrome treated with ketogenic diet. ( 24907925 )
2015
10
Substantial and sustained seizure reduction with ketogenic diet in a patient with Ohtahara syndrome. ( 26005637 )
2015
11
Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly. ( 25319849 )
2014
12
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. ( 24315539 )
2014
13
Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings. ( 24814476 )
2014
14
Genotype & Phenotype of Ohtahara Syndrome-What's SCN2A Got to Do With It? A Clinician's Read. ( 25346629 )
2014
15
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
16
Fetal suppression burst pattern in Ohtahara syndrome visualized by fetal magnetoencephalography. ( 23062710 )
2013
17
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. ( 23550958 )
2013
18
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome. ( 23935176 )
2013
19
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia. ( 22709267 )
2012
20
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
21
Ohtahara syndrome with emphasis on recent genetic discovery. ( 21967765 )
2012
22
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. ( 22211739 )
2012
23
Ohtahara syndrome or early-onset West syndrome? A case with overlapping features and favorable response to vigabatrin. ( 22766350 )
2012
24
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. ( 22926866 )
2012
25
Evolution of Ohtahara syndrome to continuous spikes and waves during slow sleep in an infant. ( 23019763 )
2012
26
Ohtahara syndrome with biotinidase deficiency. ( 21115748 )
2011
27
Ohtahara syndrome and respiratory chain complex I deficiency. ( 21257094 )
2011
28
Anesthetic experience of a patient with Ohtahara syndrome -A case report-. ( 21390168 )
2011
29
A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females. ( 21426321 )
2011
30
A case of Ohtahara syndrome with mitochondrial respiratory chain complex I deficiency. ( 19233577 )
2010
31
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). ( 19738637 )
2010
32
A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. ( 19747203 )
2010
33
Frameshift mutations of the ARX gene in familial Ohtahara syndrome. ( 20384723 )
2010
34
Familial Ohtahara syndrome due to a novel ARX gene mutation. ( 21108397 )
2010
35
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. ( 21204804 )
2010
36
Respiratory chain complex I deficiency in an infant with Ohtahara syndrome. ( 18617342 )
2009
37
Proteus syndrome associated with hemimegalencephaly and Ohtahara syndrome: report of two cases. ( 18082431 )
2008
38
Combined general and regional anesthesia in a child with Ohtahara syndrome. ( 18950340 )
2008
39
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
40
Persistence of suppression-bursts in a patient with Ohtahara syndrome. ( 17690073 )
2007
41
Pheumocephalus in an infant with Ohtahara syndrome--a case report. ( 18044295 )
2007
42
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
43
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
44
Impact of early hemispherotomy in a case of Ohtahara syndrome with left parieto-occipital megalencephaly. ( 16046152 )
2005
45
Anaesthesia in an adolescent with Ohtahara syndrome. ( 12969054 )
2003
46
Ohtahara syndrome. ( 14735807 )
2003
47
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
48
Successful treatment of Ohtahara syndrome with chloral hydrate. ( 12504208 )
2002
49
Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ( 11504609 )
2001
50
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001

Variations for Ohtahara Syndrome

Copy number variations for Ohtahara Syndrome from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 246802 9 125800000 132500000 Copy number STXBP1 Ohtahara syndrome

Expression for Ohtahara Syndrome

Search GEO for disease gene expression data for Ohtahara Syndrome.

Pathways for Ohtahara Syndrome

GO Terms for Ohtahara Syndrome

Biological processes related to Ohtahara Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 neurotransmitter secretion GO:0007269 8.62 CASK STXBP1

Sources for Ohtahara Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
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43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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