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EIEE
MCID: ERL057
MIFTS: 49

Early Infantile Epileptic Encephalopathy (EIEE)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways
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Aliases & Classifications for Early Infantile Epileptic Encephalopathy

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MalaCards integrated aliases for Early Infantile Epileptic Encephalopathy:

Name: Early Infantile Epileptic Encephalopathy 12 53 54 59 37 29 6 15
Ohtahara Syndrome 12 54 59
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 59
Early Infantile Epileptic Encephalopathy with Burst-Suppression 12
Encephalopathy, Epileptic, Early Infantile 40
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;

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Liver diseases Eye diseases Mental diseases Muscle diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050709
Orphanet 59 ORPHA1934
UMLS via Orphanet 74 C0393706
ICD10 via Orphanet 34 G40.3
KEGG 37 H00606
Sources

Summaries for Early Infantile Epileptic Encephalopathy

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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 : Early Infantile Epileptic Encephalopathy, also known as ohtahara syndrome, is related to epileptic encephalopathy, early infantile, 1 and malignant migrating partial seizures of infancy. An important gene associated with Early Infantile Epileptic Encephalopathy is STXBP1 (Syntaxin Binding Protein 1), and among its related pathways/superpathways are Retrograde endocannabinoid signaling and GABAergic synapse. Affiliated tissues include brain, eye and liver, and related phenotypes are behavior/neurological and growth/size/body region

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

NINDS : 54 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.”

Wikipedia : 76 Ohtahara syndrome (OS), also known as early infantile epileptic encephalopathy with burst-suppression... more...

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Related Diseases for Early Infantile Epileptic Encephalopathy

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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
Epileptic Encephalopathy, Early Infantile, 66 Epileptic Encephalopathy, Early Infantile, 67
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 1 33.0 ARX KCNQ2
2 malignant migrating partial seizures of infancy 32.9 SCN1A SCN2A SLC25A22
3 epileptic encephalopathy, early infantile, 9 32.9 CDKL5 PCDH19 SCN1A
4 epileptic encephalopathy, early infantile, 6 32.1 CDKL5 KCNQ2 PCDH19 SCN1A SCN2A SCN8A
5 infantile epileptic encephalopathy 31.5 CACNA2D2 CDKL5 NECAP1 PCDH19 SCN1A SCN2A
6 encephalopathy 31.2 ARX CDKL5 GNAO1 NECAP1 PCDH19 SCN1A
7 early myoclonic encephalopathy 30.3 ARX CDKL5 SCN1A SIK1 SLC25A22
8 west syndrome 30.3 ARX CDKL5 KCNQ2 SCN1A SCN2A SCN8A
9 epilepsy 30.0 ARX CDKL5 KCNQ2 PCDH19 SCN1A SCN2A
10 stxbp1 encephalopathy with epilepsy 12.2
11 epileptic encephalopathy, early infantile, 8 12.1
12 microcephaly, seizures, and developmental delay 12.0
13 epileptic encephalopathy, early infantile, 12 12.0
14 epileptic encephalopathy, early infantile, 7 11.9
15 epileptic encephalopathy, early infantile, 15 11.9
16 scn8a-related epilepsy with encephalopathy 11.6
17 epileptic encephalopathy, early infantile, 3 11.6
18 cdkl5 deficiency disorder 11.6
19 epileptic encephalopathy, early infantile, 39 11.5
20 epileptic encephalopathy, early infantile, 5 11.5
21 epileptic encephalopathy, early infantile, 11 11.5
22 epileptic encephalopathy, early infantile, 16 11.5
23 epileptic encephalopathy, early infantile, 18 11.5
24 epileptic encephalopathy, early infantile, 21 11.5
25 epileptic encephalopathy, early infantile, 34 11.5
26 epileptic encephalopathy, early infantile, 55 11.5
27 epileptic encephalopathy, early infantile, 59 11.5
28 epileptic encephalopathy, early infantile, 62 11.5
29 gnao1 encephalopathy 11.5
30 multiple congenital anomalies-hypotonia-seizures syndrome 2 11.3
31 epileptic encephalopathy, early infantile, 19 11.3
32 epileptic encephalopathy, early infantile, 24 11.3
33 epileptic encephalopathy, early infantile, 25 11.3
34 epileptic encephalopathy, early infantile, 26 11.3
35 epileptic encephalopathy, early infantile, 28 11.3
36 epileptic encephalopathy, early infantile, 29 11.3
37 epileptic encephalopathy, early infantile, 30 11.3
38 epileptic encephalopathy, early infantile, 31 11.3
39 epileptic encephalopathy, early infantile, 32 11.3
40 epileptic encephalopathy, early infantile, 33 11.3
41 epileptic encephalopathy, early infantile, 44 11.3
42 epileptic encephalopathy, early infantile, 61 11.3
43 cad-cdg 11.3
44 epileptic encephalopathy, early infantile, 50 11.2
45 epileptic encephalopathy, early infantile, 2 10.9
46 epileptic encephalopathy, early infantile, 36 10.9
47 congenital disorder of glycosylation, type iim 10.9
48 epileptic encephalopathy, early infantile, 14 10.9
49 epileptic encephalopathy, early infantile, 17 10.9
50 epileptic encephalopathy, early infantile, 27 10.9

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



Diseases related to Early Infantile Epileptic Encephalopathy
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Symptoms & Phenotypes for Early Infantile Epileptic Encephalopathy

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MGI Mouse Phenotypes related to Early Infantile Epileptic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.03 ARX CACNA2D2 CASK CDKL5 GNAO1 KCNA1
2 growth/size/body region MP:0005378 9.9 ARX CACNA2D2 CASK GNAO1 KCNA1 KCNQ2
3 mortality/aging MP:0010768 9.77 ARX CACNA2D2 CASK GNAO1 KCNA1 KCNQ2
4 nervous system MP:0003631 9.5 ARX CACNA2D2 CASK CDKL5 GNAO1 KCNA1
Sources

Drugs & Therapeutics for Early Infantile Epileptic Encephalopathy

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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 Early Infantile Epileptic Encephalopathy

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Genetic Tests for Early Infantile Epileptic Encephalopathy

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Genetic tests related to Early Infantile Epileptic Encephalopathy:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 29
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Anatomical Context for Early Infantile Epileptic Encephalopathy

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MalaCards organs/tissues related to Early Infantile Epileptic Encephalopathy:

41
Brain, Eye, Liver
Sources

Publications for Early Infantile Epileptic Encephalopathy

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Articles related to Early Infantile Epileptic Encephalopathy:

(show top 50) (show all 54)
# 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
A Child with a c.6923_6928dup (p.Arg2308_Met2309dup) SPTAN1 Mutation Associated with a Severe Early Infantile Epileptic Encephalopathy. ( 29986434 )
2018
6
Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome. ( 30107960 )
2018
7
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. ( 30109124 )
2018
8
De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. ( 30323019 )
2018
9
The role of Protocadherin 19 (PCDH19) in neurodevelopment and in the pathophysiology of early infantile epileptic encephalopathy-9 (EIEE9). ( 30431232 )
2018
10
Response to Carbamazepine in KCNQ2 Related Early Infantile Epileptic Encephalopathy. ( 30515704 )
2018
11
Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome. ( 29217410 )
2018
12
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16. ( 28726039 )
2017
13
Familial early infantile epileptic encephalopathy and cardiac conduction disorder: A rare cause of SUDEP in infancy. ( 28697420 )
2017
14
Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy. ( 28334793 )
2017
15
Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching. ( 28387369 )
2017
16
Somatic Mosaicism of PCDH19 in a male with early infantile epileptic encephalopathy and review of the literature. ( 28462982 )
2017
17
Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing. ( 26721324 )
2016
18
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. ( 27069701 )
2016
19
Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. ( 27876397 )
2016
20
GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy. ( 26645412 )
2016
21
Turkish cases of early infantile epileptic encephalopathy: two novel mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. ( 26701947 )
2015
22
Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma. ( 26167232 )
2015
23
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. ( 24938147 )
2014
24
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. ( 24747641 )
2014
25
A unique phenotype of 2q24.3-2q32.1 duplication: early infantile epileptic encephalopathy without mesomelic dysplasia. ( 23456534 )
2014
26
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. ( 23339110 )
2013
27
Novel STXBP1 Mutations in 2 Patients With Early Infantile Epileptic Encephalopathy. ( 23533165 )
2013
28
Epilepsy surgery for early infantile epileptic encephalopathy (ohtahara syndrome). ( 23143728 )
2013
29
Early infantile epileptic encephalopathy associated with the disrupted gene encoding Slit-Robo Rho GTPase activating protein 2 (SRGAP2). ( 22106086 )
2012
30
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. ( 20887364 )
2010
31
Early infantile epileptic encephalopathy with unusual favourable outcome. ( 19767162 )
2010
32
Neuroepidemiology of West syndrome and early infantile epileptic encephalopathy in Miyagi Prefecture, Japan. ( 19828294 )
2009
33
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. ( 18469812 )
2008
34
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). ( 17668384 )
2007
35
Hemispherectomy in early infantile epileptic encephalopathy. ( 17608304 )
2007
36
Hidden focal EEG seizures during prolonged suppressions and high-amplitude bursts in early infantile epileptic encephalopathy. ( 15826852 )
2005
37
Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy. ( 11955931 )
2002
38
Early-infantile epileptic encephalopathy with suppression-bursts, Ohtahara syndrome; its overview referring to our 16 cases. ( 11751020 )
2002
39
Early infantile epileptic encephalopathy (Ohtahara syndrome) after maternal electric injury during pregnancy: etiological considerations. ( 11504609 )
2001
40
Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). ( 11701283 )
2001
41
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
42
Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 11701286 )
2001
43
Zonisamide treatment of early infantile epileptic encephalopathy. ( 11068168 )
2000
44
Surgical treatment of a case of early infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia. ( 10080520 )
1999
45
Early infantile epileptic encephalopathy: a long-term follow-up study. ( 8906368 )
1996
46
Early infantile epileptic encephalopathy: report of one case. ( 9074283 )
1996
47
[Effect of the ketogenic diet for West syndrome into which early infantile epileptic encephalopathy with suppression-burst was evolved]. ( 7576784 )
1995
48
A case of early infantile epileptic encephalopathy (EIEE) with anatomical cerebral asymmetry and myoclonus. ( 8214333 )
1993
49
Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. ( 1492660 )
1992
50
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
Sources

Variations for Early Infantile Epileptic Encephalopathy

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ClinVar genetic disease variations for Early Infantile Epileptic Encephalopathy:

6 (show top 50) (show all 2896)
# 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_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic rs121918623 GRCh37 Chromosome 2, 166894608: 166894608
6 SCN1A NM_006920.4(SCN1A): c.2591C> T (p.Thr864Met) single nucleotide variant Pathogenic rs121918623 GRCh38 Chromosome 2, 166038098: 166038098
7 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh37 Chromosome 2, 166911187: 166911187
8 SCN1A NM_006920.5(SCN1A): c.563A> T (p.Asp188Val) single nucleotide variant Likely pathogenic rs121917953 GRCh38 Chromosome 2, 166054677: 166054677
9 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh37 Chromosome 20, 62046439: 62046439
10 KCNQ2 NM_172107.3(KCNQ2): c.1342C> T (p.Arg448Ter) single nucleotide variant Pathogenic rs118192226 GRCh38 Chromosome 20, 63415086: 63415086
11 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh37 Chromosome 20, 62046255: 62046255
12 KCNQ2 NM_172107.3(KCNQ2): c.1525+1G> A single nucleotide variant Pathogenic rs118192228 GRCh38 Chromosome 20, 63414902: 63414902
13 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh37 Chromosome 20, 62045527: 62045527
14 KCNQ2 NM_172107.3(KCNQ2): c.1545G> C (p.Glu515Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs117067974 GRCh38 Chromosome 20, 63414174: 63414174
15 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh37 Chromosome 20, 62044825: 62044825
16 KCNQ2 NM_172107.3(KCNQ2): c.1741C> T (p.Arg581Ter) single nucleotide variant Pathogenic rs118192236 GRCh38 Chromosome 20, 63413472: 63413472
17 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh37 Chromosome 20, 62103816: 62103816
18 KCNQ2 NM_172107.3(KCNQ2): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs118192185 GRCh38 Chromosome 20, 63472463: 63472463
19 KCNQ2 NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs118192194 GRCh37 Chromosome 20, 62078122: 62078122
20 KCNQ2 NM_172107.3(KCNQ2): c.365C> T (p.Ser122Leu) single nucleotide variant Pathogenic rs118192194 GRCh38 Chromosome 20, 63446769: 63446769
21 KCNQ2 NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118192203 GRCh37 Chromosome 20, 62076065: 62076065
22 KCNQ2 NM_172107.3(KCNQ2): c.637C> T (p.Arg213Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs118192203 GRCh38 Chromosome 20, 63444712: 63444712
23 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh37 Chromosome 20, 62070004: 62070004
24 KCNQ2 NM_172107.3(KCNQ2): c.997C> T (p.Arg333Trp) single nucleotide variant Pathogenic rs118192215 GRCh38 Chromosome 20, 63438651: 63438651
25 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh37 Chromosome 2, 166868775: 166868775
26 SCN1A NM_006920.4(SCN1A): c.3690T> C (p.Tyr1230=) single nucleotide variant Benign/Likely benign rs36031496 GRCh38 Chromosome 2, 166012265: 166012265
27 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh37 Chromosome 20, 62076064: 62076064
28 KCNQ2 NM_172107.3(KCNQ2): c.638G> A (p.Arg213Gln) single nucleotide variant Pathogenic/Likely pathogenic rs397514581 GRCh38 Chromosome 20, 63444711: 63444711
29 CACNA2D2 NM_001174051.2(CACNA2D2): c.3140T> C (p.Leu1047Pro) single nucleotide variant Uncertain significance rs587776948 GRCh37 Chromosome 3, 50402595: 50402595
30 CACNA2D2 NM_001174051.2(CACNA2D2): c.3140T> C (p.Leu1047Pro) single nucleotide variant Uncertain significance rs587776948 GRCh38 Chromosome 3, 50365164: 50365164
31 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh37 Chromosome 16, 56370656: 56370656
32 GNAO1 NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg) single nucleotide variant Pathogenic rs587777057 GRCh38 Chromosome 16, 56336744: 56336744
33 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh37 Chromosome 2, 166903480: 166903480
34 SCN1A NM_006920.4(SCN1A): c.1177C> T (p.Arg393Cys) single nucleotide variant Pathogenic rs121917929 GRCh38 Chromosome 2, 166046970: 166046970
35 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh37 Chromosome 2, 166903479: 166903479
36 SCN1A NM_006920.4(SCN1A): c.1178G> A (p.Arg393His) single nucleotide variant Pathogenic rs121917927 GRCh38 Chromosome 2, 166046969: 166046969
37 SCN1A NM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121917964 GRCh37 Chromosome 2, 166929881: 166929881
38 SCN1A NM_006920.4(SCN1A): c.251A> G (p.Tyr84Cys) single nucleotide variant Pathogenic/Likely pathogenic rs121917964 GRCh38 Chromosome 2, 166073371: 166073371
39 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh37 Chromosome 2, 166894395: 166894395
40 SCN1A NM_006920.4(SCN1A): c.2804G> A (p.Arg935His) single nucleotide variant Pathogenic rs121917971 GRCh38 Chromosome 2, 166037885: 166037885
41 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh37 Chromosome 2, 166915162: 166915162
42 SCN1A NM_006920.4(SCN1A): c.301C> T (p.Arg101Trp) single nucleotide variant Pathogenic rs121917965 GRCh38 Chromosome 2, 166058652: 166058652
43 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh37 Chromosome 2, 166915161: 166915161
44 SCN1A NM_006920.4(SCN1A): c.302G> A (p.Arg101Gln) single nucleotide variant Pathogenic rs121917918 GRCh38 Chromosome 2, 166058651: 166058651
45 SCN1A NM_006920.4(SCN1A): c.3681A> C (p.Glu1227Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121917973 GRCh37 Chromosome 2, 166868784: 166868784
46 SCN1A NM_006920.4(SCN1A): c.3681A> C (p.Glu1227Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121917973 GRCh38 Chromosome 2, 166012274: 166012274
47 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh37 Chromosome 2, 166868764: 166868764
48 SCN1A NM_006920.4(SCN1A): c.3701G> A (p.Arg1234Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121917912 GRCh38 Chromosome 2, 166012254: 166012254
49 SCN1A NM_006920.4(SCN1A): c.3891A> T (p.Glu1297Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121917910 GRCh37 Chromosome 2, 166866307: 166866307
50 SCN1A NM_006920.4(SCN1A): c.3891A> T (p.Glu1297Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs121917910 GRCh38 Chromosome 2, 166009797: 166009797
Sources

Expression for Early Infantile Epileptic Encephalopathy

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

Pathways for Early Infantile Epileptic Encephalopathy

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Pathways related to Early Infantile Epileptic Encephalopathy 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

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

# Super pathways Score Top Affiliating Genes
1
G-Beta Gamma Signaling 64
Show member pathways
 12.67 CACNA2D2 GNAO1 SCN1A SCN2A SCN8A
2
Transmission across Chemical Synapses 66
Show member pathways
 12.62 CACNA2D2 CASK KCNA1 KCNQ2 STXBP1
3
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.32 CACNA2D2 SCN1A SCN2A SCN8A
4
Neuroscience 4
12.03 CASK GNAO1 KCNQ2 SCN1A SCN2A SCN8A
5
L1CAM interactions 66
Show member pathways
 11.65 KCNQ2 SCN1A SCN2A SCN8A SPTAN1
6
Phase 0 - rapid depolarisation 66
Show member pathways
 11.43 CACNA2D2 SCN1A SCN2A SCN8A
7
Nephrin interactions 66
10.66 CASK SPTAN1
8
Interaction between L1 and Ankyrins 66
10.5 KCNQ2 SCN1A SCN2A SCN8A SPTAN1
Sources

GO Terms for Early Infantile Epileptic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 9.78 CDKL5 KCNA1 SCN2A STXBP1
2 axon GO:0030424 9.72 KCNA1 SCN1A SCN2A SCN8A STXBP1
3 paranode region of axon GO:0033270 9.43 KCNA1 SCN2A
4 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex GO:0000506 9.4 PIGP PIGQ
5 sodium channel complex GO:0034706 9.37 SCN1A SCN2A
6 axon initial segment GO:0043194 9.33 KCNQ2 SCN1A SCN8A
7 voltage-gated sodium channel complex GO:0001518 9.13 SCN1A SCN2A SCN8A
8 node of Ranvier GO:0033268 8.92 KCNQ2 SCN1A SCN2A SCN8A
9 plasma membrane GO:0005886 10.23 CACNA2D2 CASK GNAO1 KCNA1 KCNQ2 NECAP1
10 membrane GO:0016020 10.19 CACNA2D2 CASK GNAO1 KCNA1 KCNQ2 NECAP1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.8 ARX KCNQ2 SCN2A SCN8A SRGAP2
2 transmembrane transport GO:0055085 9.8 KCNA1 KCNQ2 SCN1A SCN2A SCN8A SLC25A22
3 ion transport GO:0006811 9.8 CACNA2D2 KCNA1 KCNQ2 SCN1A SCN2A SCN8A
4 ion transmembrane transport GO:0034220 9.78 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 preassembly of GPI anchor in ER membrane GO:0016254 9.49 PIGP PIGQ
8 detection of mechanical stimulus involved in sensory perception of pain GO:0050966 9.46 KCNA1 SCN1A
9 positive regulation of organ growth GO:0046622 9.43 ARX CACNA2D2
10 membrane depolarization during action potential GO:0086010 9.33 SCN1A SCN2A SCN8A
11 neuronal action potential GO:0019228 9.26 KCNA1 SCN1A SCN2A SCN8A
12 regulation of ion transmembrane transport GO:0034765 9.1 CACNA2D2 KCNA1 KCNQ2 SCN1A SCN2A SCN8A

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.56 KCNA1 SCN1A SCN2A SCN8A
2 sodium channel activity GO:0005272 9.33 SCN1A SCN2A SCN8A
3 phosphatidylinositol N-acetylglucosaminyltransferase activity GO:0017176 9.32 PIGP PIGQ
4 voltage-gated sodium channel activity GO:0005248 9.13 SCN1A SCN2A SCN8A
5 voltage-gated ion channel activity GO:0005244 9.02 KCNA1 KCNQ2 SCN1A SCN2A SCN8A
Sources

Sources for Early Infantile Epileptic Encephalopathy

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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