MCID: OHT001
MIFTS: 39

Ohtahara Syndrome

Categories: Neuronal diseases

Aliases & Classifications for Ohtahara Syndrome

MalaCards integrated aliases for Ohtahara Syndrome:

Name: Ohtahara Syndrome 53 6

Classifications:



Summaries for Ohtahara Syndrome

NINDS : 53 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 developmental and epileptic encephalopathy 17 and developmental and epileptic encephalopathy 4. An important gene associated with Ohtahara Syndrome is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. Affiliated tissues include brain, eye and cortex, and related phenotypes are behavior/neurological and nervous system

Wikipedia : 73 Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy (EIEE) is a progressive... more...

Related Diseases for Ohtahara Syndrome

Diseases related to Ohtahara Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 17 32.0 GNAO1 ARX
2 developmental and epileptic encephalopathy 4 31.9 STXBP1 CDKL5
3 developmental and epileptic encephalopathy 1 31.3 STXBP1 SLC25A22 SCN1A KCNQ2 GNAO1 CDKL5
4 hemimegalencephaly 30.6 SCN1A LOC102724058
5 seizures, benign familial infantile, 3 30.6 SCN2A KCNQ2
6 stxbp1 encephalopathy 30.2 STXBP1 CDKL5
7 neuronal migration disorders 30.1 SCN1A LOC102724058 ARX
8 focal epilepsy 29.6 SPTAN1 SCN8A SCN2A SCN1A LOC102724058 CDKL5
9 early myoclonic encephalopathy 29.6 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
10 benign familial infantile epilepsy 29.5 STXBP1 SCN8A SCN2A SCN1A KCNQ2 CDKL5
11 seizure disorder 29.4 STXBP1 SPTAN1 SCN8A SCN2A SCN1A LOC102724058
12 encephalopathy 29.4 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1A
13 alacrima, achalasia, and mental retardation syndrome 29.4 STXBP1 SCN2A SCN1A LOC102724058 KCNQ2 KCNB1
14 lennox-gastaut syndrome 29.3 STXBP1 SLC25A22 SCN8A SCN2A SCN1A KCNQ2
15 microcephaly 29.2 UBA5 STXBP1 SCN1A LOC102724058 GNAO1 CDKL5
16 dravet syndrome 28.6 STXBP1 SLC25A22 SCN8A SCN2A SCN1A LOC102724058
17 west syndrome 28.4 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
18 epilepsy 28.2 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A SCN1A
19 early infantile epileptic encephalopathy 27.6 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
20 developmental and epileptic encephalopathy 25.8 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
21 developmental and epileptic encephalopathy 7 11.3
22 developmental and epileptic encephalopathy 3 11.1
23 developmental and epileptic encephalopathy 30 11.0
24 febrile seizures, familial, 5 10.3 SCN2A SCN1A
25 megalencephaly, autosomal dominant 10.3 SCN1A LOC102724058
26 reflex epilepsy 10.3 SCN2A SCN1A
27 febrile seizures, familial, 2 10.3 SCN2A SCN1A
28 scn1a seizure disorders 10.3 SCN1A LOC102724058
29 petroclival meningioma 10.3 SCN8A HCN1
30 plagiocephaly 10.3 SCN1A LOC102724058
31 febrile seizures, familial, 1 10.2 SCN2A SCN1A
32 cerebellar atrophy with seizures and variable developmental delay 10.2 CYB561D2 CACNA2D2
33 coffin-siris syndrome 4 10.2 SCN8A SCN2A
34 early onset absence epilepsy 10.2 SCN2A SCN1A KCNQ2
35 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1A LOC102724058
36 non-syndromic intellectual disability 10.2 STXBP1 KCNB1 ARX
37 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1A KCNQ2
38 adolescence-adult electroclinical syndrome 10.2 SCN2A SCN1A KCNQ2
39 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A LOC102724058
40 progressive familial heart block, type ia 10.2 SCN8A SCN1A
41 developmental and epileptic encephalopathy 13 10.2 SCN8A SCN2A SCN1A
42 low-grade astrocytoma 10.2 SCN8A SCN2A SCN1A
43 migraine, familial hemiplegic, 3 10.2 SCN2A SCN1A LOC102724058
44 trigeminal nerve disease 10.2 SCN8A SCN2A SCN1A
45 hyperkalemic periodic paralysis 10.2 SCN8A SCN2A SCN1A
46 generalized epilepsy with febrile seizures plus, type 2 10.2 SCN1A LOC102724058
47 erythromelalgia 10.2 SCN8A SCN2A SCN1A
48 aicardi syndrome 10.2 CDKL5 ARX
49 paramyotonia congenita of von eulenburg 10.2 SCN8A SCN2A SCN1A
50 myoclonic epilepsy of infancy 10.2 SCN8A SCN1A LOC102724058

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



Diseases related to Ohtahara Syndrome

Symptoms & Phenotypes for Ohtahara Syndrome

MGI Mouse Phenotypes related to Ohtahara Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ARX CACNA2D2 CDKL5 GNAO1 HCN1 KCNB1
2 nervous system MP:0003631 9.47 ARHGEF15 ARX CACNA2D2 CDKL5 GNAO1 GOT2

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

Search NIH Clinical Center for Ohtahara Syndrome

Genetic Tests for Ohtahara Syndrome

Anatomical Context for Ohtahara Syndrome

MalaCards organs/tissues related to Ohtahara Syndrome:

40
Brain, Eye, Cortex, Cardiac Myocytes

Publications for Ohtahara Syndrome

Articles related to Ohtahara Syndrome:

(show top 50) (show all 483)
# Title Authors PMID Year
1
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. 6 61
29896790 2018
2
Novel and de novo mutations in pediatric refractory epilepsy. 6 61
30185235 2018
3
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 61 6
28687180 2018
4
Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression. 61 6
28133863 2017
5
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 61 6
27184330 2016
6
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. 61 6
26918652 2016
7
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 6 61
26865513 2016
8
Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. 61 6
25966631 2016
9
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 6 61
26514728 2015
10
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 61 6
24463883 2014
11
Novel KCNQ2 and KCNQ3 mutations in a large cohort of families with benign neonatal epilepsy: first evidence for an altered channel regulation by syntaxin-1A. 6 61
24375629 2014
12
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. 61 6
24315539 2014
13
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 61 6
23621294 2013
14
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 61 6
23409955 2013
15
Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 6 61
22926866 2012
16
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. 61 6
22211739 2012
17
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 6 61
21770924 2011
18
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 61 6
21762454 2011
19
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 6 61
20876469 2010
20
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 61 6
18469812 2008
21
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 6
31422819 2019
22
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 6
31152295 2019
23
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. 6
31418850 2019
24
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series. 6
31439038 2019
25
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 6
31255830 2019
26
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series. 6
31199083 2019
27
Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. 6
31009440 2019
28
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. 6
30615093 2019
29
Data on mutations and Clinical features in SCN1A or SCN2A gene. 6
30619928 2019
30
Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy. 6
29933521 2019
31
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. 6
31001185 2019
32
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients. 6
30182498 2018
33
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. 6
30558019 2018
34
Dravet syndrome in South African infants: Tools for an early diagnosis. 6
30321769 2018
35
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. 6
29314583 2018
36
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. 6
30174244 2018
37
The phenotype of SCN8A developmental and epileptic encephalopathy. 6
30171078 2018
38
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. 6
30146492 2018
39
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
40
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 6
29720203 2018
41
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. 6
28817111 2018
42
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. 6
29460957 2018
43
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. 6
29314763 2018
44
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 6
28708303 2018
45
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 6
29390993 2018
46
[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases]. 6
29429461 2018
47
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 6
29121005 2018
48
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. 6
29141279 2018
49
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. 6
30109124 2018
50
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 6
29215089 2018

Variations for Ohtahara Syndrome

ClinVar genetic disease variations for Ohtahara Syndrome:

6 (show top 50) (show all 3604)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA2D2 , CYB561D2 NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro) SNV Pathogenic 40230 rs587776948 GRCh37: 3:50402595-50402595
GRCh38: 3:50365164-50365164
2 KCNQ2 NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) Microsatellite Pathogenic 242008 rs878855236 GRCh37: 20:62046392-62046393
GRCh38: 20:63415039-63415040
3 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) SNV Pathogenic 238603 rs878854263 GRCh37: 2:166858984-166858984
GRCh38: 2:166002474-166002474
4 STXBP1 NM_003165.4(STXBP1):c.798T>G (p.Tyr266Ter) SNV Pathogenic 239512 rs751170778 GRCh37: 9:130430362-130430362
GRCh38: 9:127668083-127668083
5 STXBP1 NM_003165.4(STXBP1):c.1434G>A (p.Trp478Ter) SNV Pathogenic 407777 rs1060501722 GRCh37: 9:130440784-130440784
GRCh38: 9:127678505-127678505
6 CACNA2D2 NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) Deletion Pathogenic 411003 rs1060503108 GRCh37: 3:50425023-50425024
GRCh38: 3:50387592-50387593
7 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) Duplication Pathogenic 408920 rs1060502182 GRCh37: 2:166870327-166870328
GRCh38: 2:166013817-166013818
8 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) SNV Pathogenic 408935 rs121917981 GRCh37: 2:166848020-166848020
GRCh38: 2:165991510-165991510
9 SCN1A NM_001165963.4(SCN1A):c.312del (p.Thr105fs) Deletion Pathogenic 408929 rs1060502187 GRCh37: 2:166915151-166915151
GRCh38: 2:166058641-166058641
10 STXBP1 NM_003165.4(STXBP1):c.265del (p.Ser89fs) Deletion Pathogenic 407778 rs1060501723 GRCh37: 9:130422327-130422327
GRCh38: 9:127660048-127660048
11 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) Deletion Pathogenic 408921 rs1060502183 GRCh37: 2:166859030-166859030
GRCh38: 2:166002520-166002520
12 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) SNV Pathogenic 408922 rs1057521537 GRCh37: 2:166859205-166859205
GRCh38: 2:166002695-166002695
13 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) SNV Pathogenic 408930 rs1060502188 GRCh37: 2:166868676-166868676
GRCh38: 2:166012166-166012166
14 SCN1A NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) Deletion Pathogenic 461285 rs1553549483 GRCh37: 2:166908252-166908255
GRCh38: 2:166051742-166051745
15 SCN1A NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) SNV Pathogenic 461256 rs1553541473 GRCh37: 2:166894563-166894563
GRCh38: 2:166038053-166038053
16 SCN1A NM_001165963.4(SCN1A):c.566del (p.Pro189fs) Deletion Pathogenic 461282 rs1553551385 GRCh37: 2:166911184-166911184
GRCh38: 2:166054674-166054674
17 KCNQ2 NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) SNV Pathogenic 461423 rs775918190 GRCh37: 20:62070963-62070963
GRCh38: 20:63439610-63439610
18 KCNQ2 NM_172107.4(KCNQ2):c.1525+1G>A SNV Pathogenic 21763 rs118192228 GRCh37: 20:62046255-62046255
GRCh38: 20:63414902-63414902
19 SCN1A NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) Duplication Pathogenic 461273 rs1553552319 GRCh37: 2:166912939-166912940
GRCh38: 2:166056429-166056430
20 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) Deletion Pathogenic 461260 rs1553540389 GRCh37: 2:166892905-166892905
GRCh38: 2:166036395-166036395
21 KCNQ2 NC_000020.11:g.(?_63419599)_(63439728_?)del Deletion Pathogenic 461212 GRCh37:
GRCh38: 20:63419599-63439728
22 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) Deletion Pathogenic 461263 rs1553534296 GRCh37: 2:166872235-166872236
GRCh38: 2:166015725-166015726
23 overlap with 6 genes NC_000002.12:g.(?_165874735)_(166311776_?)del Deletion Pathogenic 471073 GRCh37: 2:166731245-167168286
GRCh38: 2:165874735-166311776
24 SCN1A NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) Deletion Pathogenic 461250 rs1553543215 GRCh37: 2:166897805-166897806
GRCh38: 2:166041295-166041296
25 KCNQ2 NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) SNV Pathogenic 219235 rs864321707 GRCh37: 20:62070961-62070961
GRCh38: 20:63439608-63439608
26 SCN1A NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) SNV Pathogenic 461261 rs1553540503 GRCh37: 2:166893040-166893040
GRCh38: 2:166036530-166036530
27 overlap with 5 genes NC_000020.11:g.(?_63444639)_(63528152_?)del Deletion Pathogenic 461213 GRCh37:
GRCh38: 20:63444639-63528152
28 SCN1A NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) SNV Pathogenic 461248 rs794726743 GRCh37: 2:166897895-166897895
GRCh38: 2:166041385-166041385
29 SCN1A NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) Indel Pathogenic 461246 rs1553544579 GRCh37: 2:166900283-166900291
GRCh38: 2:166043773-166043781
30 SCN1A , LOC102724058 NM_006920.6(SCN1A):c.4306-1G>A SNV Pathogenic 461271 rs1553522517 GRCh37: 2:166854686-166854686
GRCh38: 2:165998176-165998176
31 SCN1A NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) Duplication Pathogenic 461253 rs1553542199 GRCh37: 2:166895953-166895954
GRCh38: 2:166039443-166039444
32 SCN1A NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr) SNV Pathogenic 461284 rs121917935 GRCh37: 2:166911170-166911170
GRCh38: 2:166054660-166054660
33 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) SNV Pathogenic 461269 rs1553525210 GRCh37: 2:166859157-166859157
GRCh38: 2:166002647-166002647
34 STXBP1 NC_000009.12:g.(?_127658355)_(127658471_?)del Deletion Pathogenic 461208 GRCh37:
GRCh38: 9:127658355-127658471
35 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) Deletion Pathogenic 461272 rs1553522321 GRCh37: 2:166854562-166854562
GRCh38: 2:165998052-165998052
36 KCNQ2 NC_000020.11:g.(?_63406624)_(63439728_?)del Deletion Pathogenic 461211 GRCh37:
GRCh38: 20:63406624-63439728
37 KCNQ2 NM_172107.4(KCNQ2):c.439del (p.Ala147fs) Deletion Pathogenic 530406 rs1555873981 GRCh37: 20:62076666-62076666
GRCh38: 20:63445313-63445313
38 KCNQ2 NM_172107.4(KCNQ2):c.687del (p.Ser229fs) Deletion Pathogenic 530407 rs1555873656 GRCh37: 20:62076015-62076015
GRCh38: 20:63444662-63444662
39 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) Deletion Pathogenic 530413 rs1553529426 GRCh37: 2:166866234-166866234
GRCh38: 2:166009724-166009724
40 CDKL5 NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) Indel Pathogenic 523629 rs1555951141 GRCh37: X:18613474-18613474
GRCh38: X:18595354-18595354
41 SCN1A NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) SNV Pathogenic 530404 rs1553544559 GRCh37: 2:166900264-166900264
GRCh38: 2:166043754-166043754
42 KCNQ2 NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) SNV Pathogenic 530424 rs747376305 GRCh37: 20:62065194-62065194
GRCh38: 20:63433841-63433841
43 KCNQ2 NM_172107.4(KCNQ2):c.848del (p.Lys283fs) Deletion Pathogenic 530425 rs1555870506 GRCh37: 20:62071030-62071030
GRCh38: 20:63439677-63439677
44 SLC25A22 NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter) SNV Pathogenic 530429 rs936639741 GRCh37: 11:793551-793551
GRCh38: 11:793551-793551
45 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Pathogenic 436749 rs1554965669 GRCh37: 11:792888-792888
GRCh38: 11:792888-792888
46 STXBP1 NM_003165.4(STXBP1):c.734A>G (p.His245Arg) SNV Pathogenic 160070 rs587784453 GRCh37: 9:130428515-130428515
GRCh38: 9:127666236-127666236
47 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr) SNV Pathogenic 530440 rs927722314 GRCh37: 2:166848522-166848522
GRCh38: 2:165992012-165992012
48 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs) Deletion Pathogenic 530449 rs1553525036 GRCh37: 2:166859080-166859092
GRCh38: 2:166002570-166002582
49 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) SNV Pathogenic 189975 rs542420576 GRCh37: 2:166892881-166892881
GRCh38: 2:166036371-166036371
50 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) SNV Pathogenic 530452 rs1553523142 GRCh37: 2:166856238-166856238
GRCh38: 2:165999728-165999728

Copy number variations for Ohtahara Syndrome from CNVD:

7
# CNVD ID Chromosome 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

Cellular components related to Ohtahara Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.28 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN2A
2 axon GO:0030424 9.73 STXBP1 SCN8A SCN2A SCN1A KCNB1 HCN1
3 T-tubule GO:0030315 9.5 SCN2A SCN1A GOT2
4 sodium channel complex GO:0034706 9.37 SCN2A SCN1A
5 axon initial segment GO:0043194 9.33 SCN8A SCN1A KCNQ2
6 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN2A SCN1A
7 node of Ranvier GO:0033268 8.92 SCN8A SCN2A SCN1A KCNQ2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 SCN8A SCN2A SCN1A KCNQ2 KCNB1
2 potassium ion transport GO:0006813 9.78 KCNQ2 KCNH5 KCNB1 HCN1
3 potassium ion transmembrane transport GO:0071805 9.76 KCNQ2 KCNH5 KCNB1 HCN1
4 transmembrane transport GO:0055085 9.76 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 KCNH5
5 sodium ion transport GO:0006814 9.73 SCN8A SCN2A SCN1A HCN1
6 regulation of membrane potential GO:0042391 9.69 SCN1A KCNH5 HCN1
7 cation transmembrane transport GO:0098655 9.67 SCN8A SCN2A SCN1A
8 sodium ion transmembrane transport GO:0035725 9.62 SCN8A SCN2A SCN1A HCN1
9 ion transport GO:0006811 9.61 SLC25A22 SCN8A SCN2A SCN1A KCNQ2 KCNH5
10 action potential GO:0001508 9.54 SCN1A KCNB1
11 neuronal action potential GO:0019228 9.54 SCN8A SCN2A SCN1A
12 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.52 STXBP1 KCNB1
13 membrane depolarization during action potential GO:0086010 9.43 SCN8A SCN2A SCN1A
14 regulation of ion transmembrane transport GO:0034765 9.23 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1

Molecular functions related to Ohtahara Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.67 KCNQ2 KCNH5 KCNB1 HCN1
2 voltage-gated potassium channel activity GO:0005249 9.62 KCNQ2 KCNH5 KCNB1 HCN1
3 cation channel activity GO:0005261 9.58 SCN8A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.56 SCN8A SCN2A SCN1A HCN1
5 ion channel activity GO:0005216 9.5 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1
6 voltage-gated sodium channel activity GO:0005248 9.46 SCN8A SCN2A SCN1A HCN1
7 voltage-gated ion channel activity GO:0005244 9.23 SCN8A SCN2A SCN1A KCNQ2 KCNH5 KCNB1

Sources for Ohtahara Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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