MCID: EPL099
MIFTS: 52

Epileptic Encephalopathy, Early Infantile, 15

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 15

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

Name: Epileptic Encephalopathy, Early Infantile, 15 57 12 75 13 73
Early Infantile Epileptic Encephalopathy 12 53 54 59 37 29 6
Ohtahara Syndrome 12 54 59 15
Early Infantile Epileptic Encephalopathy 15 29 6
Eiee15 57 75
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 59
Early Infantile Epileptic Encephalopathy with Suppression Bursts 73
Early Infantile Epileptic Encephalopathy with Burst-Suppression 12
Encephalopathy, Epileptic, Early Infantile, Type 15 40
Encephalopathy, Epileptic, Early Infantile 40
X-Linked Infantile Spasm Syndrome 73
Eiee 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
epileptic encephalopathy, early infantile, 15:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 615006
Disease Ontology 12 DOID:0050709
Orphanet 59 ORPHA1934
UMLS via Orphanet 74 C0393706
ICD10 via Orphanet 34 G40.3
MeSH 44 D013036
KEGG 37 H00606

Summaries for Epileptic Encephalopathy, Early Infantile, 15

NIH Rare Diseases : 53 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. 

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, 6. 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 Retrograde endocannabinoid signaling and GABAergic synapse. Affiliated tissues include eye and brain, and related phenotypes are irritability and poor eye contact

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

NINDS : 54 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 : 75 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 Epileptic Encephalopathy, Early Infantile, 59
Epileptic Encephalopathy, Early Infantile, 60 Epileptic Encephalopathy, Early Infantile, 61
Epileptic Encephalopathy, Early Infantile, 62 Epileptic Encephalopathy, Early Infantile, 63
Epileptic Encephalopathy, Early Infantile, 64 Epileptic Encephalopathy, Early Infantile, 65
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

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, 6 30.9 CDKL5 KCNQ2 KCNT1 PNPO SCN1A SCN2A
3 encephalopathy 30.6 CDKL5 GNAO1 PNPO SCN1A SLC25A22 STXBP1
4 early myoclonic encephalopathy 30.6 ARX CDKL5 SCN1A SIK1 SLC25A22
5 epilepsy 30.4 ARX CDKL5 KCNQ2 KCNT1 SCN1A
6 infantile epileptic encephalopathy 29.8 ARX CACNA2D2 CDKL5 SCN1A SCN2A SCN8A
7 microcephaly 29.6 AKT3 CASK CDKL5 PNKP STXBP1
8 west syndrome 28.6 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A
9 stxbp1 encephalopathy with epilepsy 12.0
10 epileptic encephalopathy, early infantile, 8 11.9
11 microcephaly, seizures, and developmental delay 11.9
12 epileptic encephalopathy, early infantile, 12 11.9
13 epileptic encephalopathy, early infantile, 7 11.3
14 myoclonic epilepsy of infancy 10.8 SCN1A SCN8A
15 epilepsy with generalized tonic-clonic seizures 10.7 SCN1A SCN2A
16 seizures, benign familial infantile, 3 10.7 KCNQ2 SCN1A SCN2A
17 epileptic encephalopathy, early infantile, 9 10.6 CDKL5 KCNQ2 SCN1A
18 benign neonatal seizures 10.6 KCNQ2 SCN2A
19 mental retardation, x-linked, syndromic, hedera type 10.5 ARX SCN2A
20 generalized epilepsy with febrile seizures plus 10.5 KCNQ2 SCN1A SCN2A SCN8A
21 benign epilepsy with centrotemporal spikes 10.5 KCNQ2 KCNT1 SCN2A
22 malignant migrating partial seizures of infancy 10.4 KCNT1 SCN1A SCN2A SLC25A22
23 benign familial infantile epilepsy 10.3 KCNQ2 PNPO SCN2A SCN8A
24 lennox-gastaut syndrome 10.3 AKT3 KCNQ2 SCN1A ST3GAL3 STXBP1
25 focal epilepsy 10.2 CDKL5 KCNT1 SCN1A SCN2A SCN8A
26 benign familial neonatal epilepsy 10.2 KCNQ2 SCN2A
27 epilepsy, idiopathic generalized 10.1 ARX CDKL5 KCNQ2 SCN1A SCN2A SCN8A
28 epileptic encephalopathy, early infantile, 3 10.1
29 epileptic encephalopathy, early infantile, 4 10.1
30 hemimegalencephaly 10.1
31 seizure disorder 10.1 CDKL5 KCNQ2 PNPO SCN1A SCN2A STXBP1
32 neonatal period electroclinical syndrome 10.0 ARX CDKL5 KCNQ2 SCN1A SCN2A SLC25A22
33 infancy electroclinical syndrome 9.9 ARX CDKL5 KCNQ2 KCNT1 SCN1A SCN2A
34 proteus syndrome 9.8
35 cerebellar hypoplasia 9.8
36 biotinidase deficiency 9.8
37 movement disease 9.8
38 hypertonia 9.8
39 megalencephaly 9.8
40 trehalase deficiency 9.0 ARX CASK CDKL5 GNAO1 KCNQ2 KCNT1

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:

57
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:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 irritability 32 HP:0000737
2 poor eye contact 32 HP:0000817
3 global developmental delay 32 HP:0001263
4 generalized hypotonia 32 HP:0001290
5 intellectual disability, profound 32 HP:0002187
6 primitive reflex 32 HP:0002476
7 hypsarrhythmia 32 HP:0002521
8 epileptic spasms 32 HP:0011097
9 central hypotonia 32 HP:0011398
10 epileptic encephalopathy 32 HP:0200134

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased substrate adherent cell growth GR00193-A-2 8.92 AKT3
2 Decreased substrate adherent cell growth GR00193-A-3 8.92 AKT3 CDKL5 SIK1

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.93 CACNA2D2 CASK CDKL5 GNAO1 KCNQ2 KCNT1
2 nervous system MP:0003631 9.77 AKT3 ARX CACNA2D2 CASK CDKL5 GNAO1
3 reproductive system MP:0005389 9.23 AKT3 ARX CACNA2D2 CASK GNAO1 KCNQ2

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 29
2 Early Infantile Epileptic Encephalopathy 15 29 ST3GAL3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 15

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

41
Eye, Brain

Publications for Epileptic Encephalopathy, Early Infantile, 15

Articles related to Epileptic Encephalopathy, Early Infantile, 15:

(show all 45)
# Title Authors Year
1
Mutations in SCN3A cause early infantile epileptic encephalopathy. ( 29466837 )
2018
2
LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency. ( 29681092 )
2018
3
Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report. ( 29866057 )
2018
4
Causes of mortality in early infantile epileptic encephalopathy: A systematic review. ( 29906699 )
2018
5
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
6
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
7
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
8
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
9
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
2016
10
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. ( 27069701 )
2016
11
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. ( 27876397 )
2016
12
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
13
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
14
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. ( 24938147 )
2014
15
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. ( 24747641 )
2014
16
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. ( 23456534 )
2014
17
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ( 23339110 )
2013
18
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. ( 23533165 )
2013
19
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
20
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). ( 22106086 )
2012
21
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
22
Early infantile epileptic encephalopathy with unusual favourable outcome. ( 19767162 )
2010
23
Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. ( 19828294 )
2009
24
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. ( 18469812 )
2008
25
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
26
Hemispherectomy in early infantile epileptic encephalopathy. ( 17608304 )
2007
27
Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy. ( 15826852 )
2005
28
Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. ( 11955931 )
2002
29
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
30
Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ( 11504609 )
2001
31
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
32
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
33
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
34
Zonisamide treatment of early infantile epileptic encephalopathy. ( 11068168 )
2000
35
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999
36
Early infantile epileptic encephalopathy: a long-term follow-up study. ( 8906368 )
1996
37
Early infantile epileptic encephalopathy: report of one case. ( 9074283 )
1996
38
[Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved]. ( 7576784 )
1995
39
A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. ( 8214333 )
1993
40
Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. ( 1492660 )
1992
41
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
42
MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3241488 )
1988
43
Clinical evaluation and MRI findings in early infantile epileptic encephalopathy with suppression-burst. ( 3386190 )
1988
44
Early infantile epileptic encephalopathy with suppression burst: Ohtahara syndrome. ( 3678631 )
1987
45
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:

75
# 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 2015)
# Gene Variation Type Significance SNP ID Assembly Location
1 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
2 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh38 Chromosome 9, 127675855: 127675855
3 KCNQ2 NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs74315391 GRCh37 Chromosome 20, 62076083: 62076083
4 KCNQ2 NM_172107.3(KCNQ2): c.619C> T (p.Arg207Trp) single nucleotide variant Pathogenic rs74315391 GRCh38 Chromosome 20, 63444730: 63444730
5 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh37 Chromosome 2, 166911187: 166911187
6 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh38 Chromosome 2, 166054677: 166054677
7 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
8 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
9 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh37 Chromosome 20, 62046255: 62046255
10 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh38 Chromosome 20, 63414902: 63414902
11 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh37 Chromosome 20, 62044825: 62044825
12 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh38 Chromosome 20, 63413472: 63413472
13 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh37 Chromosome 20, 62103816: 62103816
14 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh38 Chromosome 20, 63472463: 63472463
15 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh37 Chromosome 20, 62070004: 62070004
16 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh38 Chromosome 20, 63438651: 63438651
17 ST3GAL3 ST3GAL3, ALA320PRO single nucleotide variant Pathogenic
18 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
19 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh38 Chromosome 16, 56336744: 56336744
20 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
21 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
22 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
23 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh38 Chromosome 2, 166046969: 166046969
24 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh37 Chromosome 2, 166894395: 166894395
25 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh38 Chromosome 2, 166037885: 166037885
26 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
27 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh38 Chromosome 2, 166058652: 166058652
28 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
29 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh38 Chromosome 2, 166058651: 166058651
30 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh37 Chromosome 2, 166868764: 166868764
31 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh38 Chromosome 2, 166012254: 166012254
32 SCN1A NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg) single nucleotide variant Likely pathogenic rs121917919 GRCh37 Chromosome 2, 166850746: 166850746
33 SCN1A NM_006920.4(SCN1A): c.4729T> C (p.Cys1577Arg) single nucleotide variant Likely pathogenic rs121917919 GRCh38 Chromosome 2, 165994236: 165994236
34 SCN1A NM_006920.5(SCN1A): c.4789G> T (p.Asp1597Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121917915 GRCh37 Chromosome 2, 166850686: 166850686
35 SCN1A NM_006920.5(SCN1A): c.4789G> T (p.Asp1597Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs121917915 GRCh38 Chromosome 2, 165994176: 165994176
36 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Likely pathogenic rs121917995 GRCh37 Chromosome 2, 166848878: 166848878
37 SCN1A NM_006920.4(SCN1A): c.4874G> A (p.Arg1625Gln) single nucleotide variant Likely pathogenic rs121917995 GRCh38 Chromosome 2, 165992368: 165992368
38 SCN1A NM_006920.5(SCN1A): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs121917935 GRCh37 Chromosome 2, 166911170: 166911170
39 SCN1A NM_006920.5(SCN1A): c.580G> A (p.Asp194Asn) single nucleotide variant Pathogenic rs121917935 GRCh38 Chromosome 2, 166054660: 166054660
40 SCN1A NM_006920.4(SCN1A): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs121917984 GRCh37 Chromosome 2, 166909379: 166909379
41 SCN1A NM_006920.4(SCN1A): c.677C> T (p.Thr226Met) single nucleotide variant Pathogenic rs121917984 GRCh38 Chromosome 2, 166052869: 166052869
42 SCN1A NM_006920.4(SCN1A): c.680T> G (p.Ile227Ser) single nucleotide variant Pathogenic rs121917937 GRCh37 Chromosome 2, 166909376: 166909376
43 SCN1A NM_006920.4(SCN1A): c.680T> G (p.Ile227Ser) single nucleotide variant Pathogenic rs121917937 GRCh38 Chromosome 2, 166052866: 166052866
44 SCN1A NM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918788 GRCh37 Chromosome 2, 166894441: 166894441
45 SCN1A NM_006920.4(SCN1A): c.2758C> T (p.Arg920Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121918788 GRCh38 Chromosome 2, 166037931: 166037931
46 SCN1A NM_006920.4(SCN1A): c.2798T> C (p.Val933Ala) single nucleotide variant Pathogenic rs121917969 GRCh37 Chromosome 2, 166894401: 166894401
47 SCN1A NM_006920.4(SCN1A): c.2798T> C (p.Val933Ala) single nucleotide variant Pathogenic rs121917969 GRCh38 Chromosome 2, 166037891: 166037891
48 SCN1A NM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys) single nucleotide variant Pathogenic rs121918775 GRCh37 Chromosome 2, 166894396: 166894396
49 SCN1A NM_006920.4(SCN1A): c.2803C> T (p.Arg935Cys) single nucleotide variant Pathogenic rs121918775 GRCh38 Chromosome 2, 166037886: 166037886
50 SCN1A NM_001165963.1(SCN1A): c.1837C> T (p.Arg613Ter) single nucleotide variant Pathogenic rs398123585 GRCh37 Chromosome 2, 166900385: 166900385

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:

37
# Name Kegg Source Accession
1 Retrograde endocannabinoid signaling hsa04723
2 GABAergic synapse hsa04727
3 Glutamatergic synapse hsa04724
4 Dopaminergic synapse hsa04728
5 Serotonergic synapse hsa04726

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 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.37 PIGP PIGQ
2 voltage-gated sodium channel complex GO:0001518 9.33 SCN1A SCN2A SCN8A
3 sodium channel complex GO:0034706 9.32 SCN1A SCN2A
4 axon initial segment GO:0043194 9.13 KCNQ2 SCN1A SCN8A
5 node of Ranvier GO:0033268 8.92 KCNQ2 SCN1A SCN2A SCN8A
6 membrane GO:0016020 10.16 AKT3 CACNA2D2 CASK CSNK1G1 GNAO1 KCNQ2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.89 KCNQ2 SCN1A SCN2A SCN8A SLC25A22
2 protein phosphorylation GO:0006468 9.88 AKT3 CASK CDKL5 CSNK1G1 SIK1
3 phosphorylation GO:0016310 9.8 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
4 ion transmembrane transport GO:0034220 9.76 KCNQ2 SCN1A SCN2A SCN8A
5 sodium ion transport GO:0006814 9.69 SCN1A SCN2A SCN8A
6 sodium ion transmembrane transport GO:0035725 9.54 SCN1A SCN2A SCN8A
7 ion transport GO:0006811 9.5 CACNA2D2 KCNQ2 KCNT1 SCN1A SCN2A SCN8A
8 preassembly of GPI anchor in ER membrane GO:0016254 9.43 PIGP PIGQ
9 membrane depolarization during action potential GO:0086010 9.43 SCN1A SCN2A SCN8A
10 positive regulation of organ growth GO:0046622 9.4 ARX CACNA2D2
11 neuronal action potential GO:0019228 9.33 SCN1A SCN2A SCN8A
12 regulation of ion transmembrane transport GO:0034765 9.02 CACNA2D2 KCNQ2 SCN1A SCN2A SCN8A

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transferase activity GO:0016740 9.91 AKT3 CASK CDKL5 CSNK1G1 PIGP PIGQ
2 protein kinase activity GO:0004672 9.85 AKT3 CASK CDKL5 CSNK1G1 SIK1
3 kinase activity GO:0016301 9.85 AKT3 CASK CDKL5 CSNK1G1 PNKP SIK1
4 protein serine/threonine kinase activity GO:0004674 9.83 AKT3 CASK CDKL5 CSNK1G1 SIK1
5 ion channel activity GO:0005216 9.67 SCN1A SCN2A SCN8A
6 cation channel activity GO:0005261 9.5 SCN1A SCN2A SCN8A
7 voltage-gated ion channel activity GO:0005244 9.46 KCNQ2 SCN1A SCN2A SCN8A
8 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 9.4 PIGP PIGQ
9 sodium channel activity GO:0005272 9.13 SCN1A SCN2A SCN8A
10 voltage-gated sodium channel activity GO:0005248 8.8 SCN1A SCN2A SCN8A
11 ATP binding GO:0005524 10.02 AKT3 CASK CDKL5 CSNK1G1 PNKP SCN8A

Sources for Epileptic Encephalopathy, Early Infantile, 15

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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