MCID: EPL099
MIFTS: 49

Epileptic Encephalopathy, Early Infantile, 15

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases, Eye diseases, Neuronal diseases, Liver diseases, Muscle diseases, Mental diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 15

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 15:

Name: Epileptic Encephalopathy, Early Infantile, 15 53 12 71 13 69
Early Infantile Epileptic Encephalopathy 12 49 50 55 36 28
Ohtahara Syndrome 12 50 55 14
Eiee15 53 71
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 55
Early Infantile Epileptic Encephalopathy with Suppression Bursts 69
Early Infantile Epileptic Encephalopathy with Burst-Suppression 12
Early Infantile Epileptic Encephalopathy 15 28
X-Linked Infantile Spasm Syndrome 69
Eiee 55

Characteristics:

Orphanet epidemiological data:

55
early infantile epileptic encephalopathy
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable,X-linked recessive; Prevalence: 1-9/100000 (Japan),1-9/100000 (United Kingdom); Age of onset: Neonatal; Age of death: early childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
one family has been reported (last curated january 2013)
onset in the first months of life (3 to 7 months)
seizures are often refractory


HPO:

31
epileptic encephalopathy, early infantile, 15:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

OMIM 53 615006
Disease Ontology 12 DOID:0050709
Orphanet 55 ORPHA1934
UMLS via Orphanet 70 C0393706
ICD10 via Orphanet 33 G40.3
MeSH 41 D013036
KEGG 36 H00606

Summaries for Epileptic Encephalopathy, Early Infantile, 15

NIH Rare Diseases : 49 Early Infantile Epileptic Encephalopathy (EIEE) is a neurological disorder characterized by seizures. The disorder affects newborns, 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 (which cause stiffening of muscles of the body, generally those in the back, legs, and arms), but may also experience partial seizures, and rarely, myoclonic seizures (which cause jerks or twitches of the upper body, arms, or legs). Episodes may occur more than a hundred times per day. Most infants with the disorder show underdevelopment of part or all of the cerebral hemispheres or structural anomalies. Some cases are caused by metabolic disorders or by mutations in several different genes. The cause for many cases can’t be determined. There are several types of early infantile epileptic encephalopathy. The EEGs reveal a characteristic pattern of high voltage spike wave discharge followed by little activity. This pattern is known as “burst suppression.” The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. Some children with this condition go on to develop other epileptic disorders such as West syndrome and Lennox-Gestaut syndrome.  Last updated: 10/26/2016

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 15, also known as early infantile epileptic encephalopathy, is related to epileptic encephalopathy, early infantile, 1 and epileptic encephalopathy, early infantile, 4, and has symptoms including global developmental delay, irritability and intellectual disability, profound. An important gene associated with Epileptic Encephalopathy, Early Infantile, 15 is ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3), and among its related pathways/superpathways are Tight junction and Gap junction. Affiliated tissues include eye and brain, and related phenotypes are behavior/neurological and nervous system

Disease Ontology : 12 A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.

NINDS : 50 Ohtahara syndrome is a neurological disorder characterized by seizures.  The disorder affects newborns, 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, but may also experience partial seizures, and rarely, myoclonic seizures.  Ohtahara syndrome is most commonly caused by metabolic disorders or structural damage in the brain, although the cause or causes for many cases can’t be determined.  Most infants with the disorder show significant underdevelopment of part or all of the cerebral hemispheres.  The EEGs of infants with Ohtahara syndrome reveal a characteristic pattern of high voltage spike wave discharge followed by little activity.  This pattern is known as “burst suppression.” Doctors have observed that boys are more often affected than girls.

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 15: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome.

Description from OMIM: 615006

Related Diseases for Epileptic Encephalopathy, Early Infantile, 15

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 9 Epileptic Encephalopathy, Early Infantile, 8
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 36
Epileptic Encephalopathy, Early Infantile, 1 Epileptic Encephalopathy, Early Infantile, 6
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 39 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 14 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 21 Epileptic Encephalopathy, Early Infantile, 23
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 25
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 27
Epileptic Encephalopathy, Early Infantile, 28 Epileptic Encephalopathy, Early Infantile, 29
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 32 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 34
Epileptic Encephalopathy, Early Infantile, 35 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 44
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 47 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 49 Epileptic Encephalopathy, Early Infantile, 51
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 54 Epileptic Encephalopathy, Early Infantile, 55
Epileptic Encephalopathy, Early Infantile, 56 Epileptic Encephalopathy, Early Infantile, 57
Epileptic Encephalopathy, Early Infantile, 58

Diseases related to Epileptic Encephalopathy, Early Infantile, 15 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 32.4 ARX KCNQ2
2 epileptic encephalopathy, early infantile, 4 30.9 SLC25A22 STXBP1
3 infantile epileptic encephalopathy 30.6 ARX CACNA2D2 CDKL5 SCN1A STXBP1
4 epilepsy 30.3 ARX KCNQ2 KCNT1 SCN1A
5 early myoclonic encephalopathy 30.3 ARX CDKL5 SCN1A SIK1 SLC25A22
6 encephalopathy 30.1 ARX CDKL5 GNAO1 PNPO SCN1A SCN2A
7 west syndrome 28.8 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A
8 stxbp1 encephalopathy with epilepsy 12.0
9 microcephaly, seizures, and developmental delay 11.8
10 epileptic encephalopathy, early infantile, 12 11.8
11 epileptic encephalopathy, early infantile, 7 11.3
12 scn2a related disorders 10.9
13 seizures, benign familial infantile, 3 10.4 KCNQ2 SCN1A SCN2A
14 epileptic encephalopathy, early infantile, 14 10.4 KCNT1 SCN2A
15 epileptic encephalopathy, early infantile, 9 10.4 CDKL5 KCNQ2 SCN1A
16 epilepsy with generalized tonic-clonic seizures 10.4 SCN1A SCN2A
17 generalized epilepsy with febrile seizures plus 10.4 KCNQ2 SCN1A SCN2A
18 visual epilepsy 10.3 KCNQ2 PNPO SCN1A
19 mental retardation, x-linked, syndromic, hedera type 10.3 ARX SCN2A
20 benign neonatal seizures 10.3 KCNQ2 SCN2A
21 malignant migrating partial seizures of infancy 10.2 KCNT1 SCN1A SCN2A SLC25A22
22 focal epilepsy 10.2 CDKL5 KCNT1 SCN1A
23 lennox-gastaut syndrome 10.2 AKT3 KCNQ2 SCN1A ST3GAL3 STXBP1
24 epilepsy, idiopathic generalized 10.2 ARX CDKL5 KCNQ2 SCN1A SCN2A
25 benign familial infantile epilepsy 10.1 KCNQ2 KCNT1 PNPO SCN2A
26 benign familial neonatal epilepsy 10.1 KCNQ2 SCN2A
27 neonatal period electroclinical syndrome 10.1 ARX KCNQ2 SCN1A SCN2A SLC25A22 STXBP1
28 seizure disorder 10.1 CDKL5 KCNQ2 PNPO SCN1A SCN2A
29 infancy electroclinical syndrome 10.1 ARX CDKL5 KCNQ2 SCN1A SCN2A STXBP1
30 epileptic encephalopathy, early infantile, 3 10.1
31 hemimegalencephaly 10.1
32 lipomatosis, multiple 9.8
33 proteus syndrome 9.8
34 cerebellar hypoplasia 9.8
35 macrocephaly/megalencephaly syndrome, autosomal recessive 9.8
36 biotinidase deficiency 9.8
37 microcephaly 9.8
38 hypertonia 9.8
39 megalencephaly 9.8
40 epileptic encephalopathy, early infantile, 6 9.7 CDKL5 KCNQ2 KCNT1 PNPO SCN1A SCN2A

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 15:



Diseases related to Epileptic Encephalopathy, Early Infantile, 15

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 15

Symptoms via clinical synopsis from OMIM:

53
Neurologic Behavioral Psychiatric Manifestations:
irritability

Neurologic Central Nervous System:
hypsarrhythmia
poor eye contact
hypotonia
mental retardation, profound
delayed psychomotor development
more

Clinical features from OMIM:

615006

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 15:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 irritability 31 HP:0000737
3 intellectual disability, profound 31 HP:0002187
4 generalized hypotonia 31 HP:0001290
5 hypsarrhythmia 31 HP:0002521
6 epileptic encephalopathy 31 HP:0200134
7 epileptic spasms 31 HP:0011097
8 central hypotonia 31 HP:0011398
9 poor eye contact 31 HP:0000817
10 primitive reflex 31 HP:0002476

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 15:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 CASK CDKL5 GNAO1 KCNQ2 KCNT1 SCN1A
2 nervous system MP:0003631 9.44 AKT3 ARX CACNA2D2 CASK CDKL5 GNAO1

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 15

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 Epileptic Encephalopathy, Early Infantile, 15

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 15

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 15:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 28
2 Early Infantile Epileptic Encephalopathy 15 28

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 15

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 15:

38
Eye, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 15

Articles related to Epileptic Encephalopathy, Early Infantile, 15:

(show all 40)
# Title Authors Year
1
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
2
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
3
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
4
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
5
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
2016
6
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. ( 27876397 )
2016
7
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. ( 27069701 )
2016
8
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
9
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
10
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. ( 24938147 )
2014
11
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. ( 23456534 )
2014
12
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. ( 24747641 )
2014
13
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
14
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ( 23339110 )
2013
15
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. ( 23533165 )
2013
16
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). ( 22106086 )
2012
17
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
18
Early infantile epileptic encephalopathy with unusual favourable outcome. ( 19767162 )
2010
19
Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. ( 19828294 )
2009
20
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. ( 18469812 )
2008
21
Hemispherectomy in early infantile epileptic encephalopathy. ( 17608304 )
2007
22
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
23
Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy. ( 15826852 )
2005
24
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
25
Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. ( 11955931 )
2002
26
Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ( 11504609 )
2001
27
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
28
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
29
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
30
Zonisamide treatment of early infantile epileptic encephalopathy. ( 11068168 )
2000
31
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999
32
Early infantile epileptic encephalopathy: report of one case. ( 9074283 )
1996
33
Early infantile epileptic encephalopathy: a long-term follow-up study. ( 8906368 )
1996
34
A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. ( 8214333 )
1993
35
Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. ( 1492660 )
1992
36
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
37
MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3241488 )
1988
38
Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3386190 )
1988
39
Early infantile epileptic encephalopathy with suppression burst: Ohtahara syndrome. ( 3678631 )
1987
40
The early-infantile epileptic encephalopathy with suppression-burst: developmental aspects. ( 3434712 )
1987

Variations for Epileptic Encephalopathy, Early Infantile, 15

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

71
# Symbol AA change Variation ID SNP ID
1 ST3GAL3 p.Ala320Pro VAR_069319

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 15:

6 (show top 50) (show all 83)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
2 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh37 Chromosome 20, 62046255: 62046255
3 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh37 Chromosome 20, 62103816: 62103816
4 ST3GAL3 ST3GAL3, ALA320PRO single nucleotide variant Pathogenic
5 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
6 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
7 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh37 Chromosome 2, 166894395: 166894395
8 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
9 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
10 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
11 SCN1A NM_006920.4(SCN1A): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs121917984 GRCh37 Chromosome 2, 166909379: 166909379
12 SCN1A NM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs398123585 GRCh37 Chromosome 2, 166900385: 166900385
13 SCN1A NM_001165963.1(SCN1A): c.2576G> A (p.Arg859His) single nucleotide variant Pathogenic rs398123588 GRCh37 Chromosome 2, 166895946: 166895946
14 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
15 SCN1A NM_001165963.1(SCN1A): c.5536_5539delAAAC (p.Lys1846Serfs) deletion Pathogenic rs794726726 GRCh37 Chromosome 2, 166848246: 166848249
16 SCN1A NM_001165963.1(SCN1A): c.2792G> A (p.Arg931His) single nucleotide variant Pathogenic rs794726718 GRCh37 Chromosome 2, 166894440: 166894440
17 SCN1A NM_001165963.1(SCN1A): c.2593C> T (p.Arg865Ter) single nucleotide variant Pathogenic rs794726697 GRCh37 Chromosome 2, 166894639: 166894639
18 SCN1A NM_001165963.1(SCN1A): c.2589+3A> T single nucleotide variant Pathogenic rs794726775 GRCh37 Chromosome 2, 166895930: 166895930
19 SCN1A NM_001165963.1(SCN1A): c.2134C> T (p.Arg712Ter) single nucleotide variant Pathogenic rs794726730 GRCh37 Chromosome 2, 166898844: 166898844
20 SCN1A NM_001165963.1(SCN1A): c.1738C> T (p.Arg580Ter) single nucleotide variant Pathogenic rs794726736 GRCh38 Chromosome 2, 166043974: 166043974
21 SCN1A NM_001165963.1(SCN1A): c.1129C> T (p.Arg377Ter) single nucleotide variant Pathogenic rs794726799 GRCh37 Chromosome 2, 166904178: 166904178
22 SCN1A NM_001165963.1(SCN1A): c.965-1G> A single nucleotide variant Pathogenic/Likely pathogenic rs794726824 GRCh37 Chromosome 2, 166905460: 166905460
23 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
24 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
25 SCN1A NM_001165963.1(SCN1A): c.3724_3725dupAT (p.Asp1243Leufs) duplication Pathogenic rs796053072 GRCh37 Chromosome 2, 166868773: 166868774
26 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
27 STXBP1 NM_003165.3(STXBP1): c.1099C> T (p.Arg367Ter) single nucleotide variant Pathogenic rs796053366 GRCh37 Chromosome 9, 130435529: 130435529
28 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh38 Chromosome 9, 127678510: 127678510
29 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
30 KCNQ2 NM_172107.3(KCNQ2): c.1678C> T (p.Arg560Trp) single nucleotide variant Pathogenic rs773171451 GRCh38 Chromosome 20, 63413535: 63413535
31 KCNQ2 NM_172107.3(KCNQ2): c.1160delC (p.Pro387Argfs) deletion Pathogenic rs796052657 GRCh38 Chromosome 20, 63428424: 63428424
32 KCNQ2 NM_172107.3(KCNQ2): c.881C> T (p.Ala294Val) single nucleotide variant Pathogenic rs118192211 GRCh38 Chromosome 20, 63439644: 63439644
33 KCNQ2 NM_172107.3(KCNQ2): c.917C> T (p.Ala306Val) single nucleotide variant Pathogenic/Likely pathogenic rs864321707 GRCh38 Chromosome 20, 63439608: 63439608
34 SCN1A NM_001165963.1(SCN1A): c.4282G> T (p.Val1428Phe) single nucleotide variant Pathogenic rs878854263 GRCh37 Chromosome 2, 166858984: 166858984
35 SCN1A NM_001165963.1(SCN1A): c.2861A> T (p.Glu954Val) single nucleotide variant Likely pathogenic rs878854262 GRCh38 Chromosome 2, 166037861: 166037861
36 STXBP1 NM_003165.3(STXBP1): c.798T> G (p.Tyr266Ter) single nucleotide variant Pathogenic rs751170778 GRCh38 Chromosome 9, 127668083: 127668083
37 SCN8A NM_014191.3(SCN8A): c.1250A> C (p.Gln417Pro) single nucleotide variant Likely pathogenic rs878854973 GRCh38 Chromosome 12, 51705532: 51705532
38 KCNQ2 NM_172107.3(KCNQ2): c.1388_1389delTG (p.Val463Glufs) deletion Pathogenic rs878855236 GRCh37 Chromosome 20, 62046392: 62046393
39 GNAO1 NM_020988.2(GNAO1): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039494 GRCh37 Chromosome 16, 56370674: 56370674
40 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
41 KCNQ2 NM_172107.3(KCNQ2): c.868G> A (p.Gly290Ser) single nucleotide variant Pathogenic rs1057516098 GRCh38 Chromosome 20, 63439657: 63439657
42 SCN1A NM_001165963.1(SCN1A): c.4267C> G (p.Leu1423Val) single nucleotide variant Likely pathogenic rs1060502190 GRCh38 Chromosome 2, 166002489: 166002489
43 SCN1A NM_001165963.1(SCN1A): c.4236delA (p.Val1413Terfs) deletion Pathogenic rs1060502183 GRCh38 Chromosome 2, 166002520: 166002520
44 SCN1A NM_001165963.1(SCN1A): c.383+5C> G single nucleotide variant Likely pathogenic rs1060502185 GRCh37 Chromosome 2, 166915075: 166915075
45 SCN1A NM_001165963.1(SCN1A): c.4061G> T (p.Cys1354Phe) single nucleotide variant Pathogenic rs1057521537 GRCh38 Chromosome 2, 166002695: 166002695
46 SCN1A NM_001165963.1(SCN1A): c.312delC (p.Thr105Profs) deletion Pathogenic rs1060502187 GRCh38 Chromosome 2, 166058641: 166058641
47 SCN1A NM_001165963.1(SCN1A): c.4991T> C (p.Met1664Thr) single nucleotide variant Likely pathogenic rs121918765 GRCh38 Chromosome 2, 165992284: 165992284
48 SCN1A NM_001165963.1(SCN1A): c.3631dupT (p.Cys1211Leufs) duplication Pathogenic rs1060502182 GRCh38 Chromosome 2, 166013818: 166013818
49 SCN1A NM_001165963.1(SCN1A): c.3822T> G (p.Tyr1274Ter) single nucleotide variant Pathogenic rs1060502188 GRCh38 Chromosome 2, 166012166: 166012166
50 CACNA2D2 NM_006030.3(CACNA2D2): c.485_486delAT (p.Tyr162Terfs) deletion Pathogenic rs1060503108 GRCh38 Chromosome 3, 50387592: 50387593

Copy number variations for Epileptic Encephalopathy, Early Infantile, 15 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 Epileptic Encephalopathy, Early Infantile, 15

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 15.

Pathways for Epileptic Encephalopathy, Early Infantile, 15

Pathways related to Epileptic Encephalopathy, Early Infantile, 15 according to KEGG:

36
# Name Kegg Source Accession
1 Tight junction hsa04530
2 Gap junction hsa04540
3 N-Glycan biosynthesis hsa00510
4 Synaptic vesicle cycle hsa04721
5 Cholinergic synapse hsa04725
6 Glycosphingolipid biosynthesis - lacto and neolacto series hsa00601

Pathways related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.6 AKT3 CACNA2D2 CSNK1G1 GNAO1 SCN1A SCN2A
2 11.97 CASK GNAO1 KCNQ2 SCN1A SCN2A STXBP1
3
Show member pathways
11.55 KCNQ2 SCN1A SCN2A SPTAN1
4
Show member pathways
11.37 CACNA2D2 SCN1A SCN2A
5 10.71 CASK SPTAN1
6 10.4 KCNQ2 SCN1A SCN2A SPTAN1

GO Terms for Epileptic Encephalopathy, Early Infantile, 15

Cellular components related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 9.37 SCN1A SCN2A
2 axon initial segment GO:0043194 9.32 KCNQ2 SCN1A
3 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.26 PIGP PIGQ
4 sodium channel complex GO:0034706 8.96 SCN1A SCN2A
5 node of Ranvier GO:0033268 8.8 KCNQ2 SCN1A SCN2A
6 membrane GO:0016020 10.06 AKT3 CACNA2D2 CASK CSNK1G1 GNAO1 KCNQ2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein phosphorylation GO:0006468 9.77 AKT3 CASK CDKL5 CSNK1G1 SIK1
2 phosphorylation GO:0016310 9.63 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
3 ion transport GO:0006811 9.43 CACNA2D2 KCNQ2 KCNT1 SCN1A SCN2A SLC25A22
4 preassembly of GPI anchor in ER membrane GO:0016254 9.32 PIGP PIGQ
5 positive regulation of organ growth GO:0046622 9.26 ARX CACNA2D2
6 regulation of ion transmembrane transport GO:0034765 9.02 CACNA2D2 KCNQ2 KCNT1 SCN1A SCN2A

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 15 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.72 AKT3 CASK CDKL5 CSNK1G1 SIK1
2 protein serine/threonine kinase activity GO:0004674 9.65 AKT3 CASK CDKL5 CSNK1G1 SIK1
3 kinase activity GO:0016301 9.63 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
4 voltage-gated ion channel activity GO:0005244 9.58 KCNQ2 SCN1A SCN2A
5 voltage-gated sodium channel activity GO:0005248 9.37 SCN1A SCN2A
6 transferase activity GO:0016740 9.28 AKT3 CASK CDKL5 CSNK1G1 PIGP PIGQ
7 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 8.96 PIGP PIGQ

Sources for Epileptic Encephalopathy, Early Infantile, 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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