EIEE
MCID: EPL025
MIFTS: 67

Epileptic Encephalopathy, Early Infantile, 2 (EIEE) malady

Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Fetal diseases categories
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Summaries for Epileptic Encephalopathy, Early Infantile, 2

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MalaCards based summary: Epileptic Encephalopathy, Early Infantile, 2, also known as early infantile epileptic encephalopathy, is related to rett syndrome and dravet syndrome, and has symptoms including movement disorder, tics/stereotypias and intellectual deficit/mental/psychomotor retardation/learning disability. An important gene associated with Epileptic Encephalopathy, Early Infantile, 2 is CDKL5 (cyclin-dependent kinase-like 5), and among its related pathways are L1CAM interactions and Interaction between L1 and Ankyrins. The drug topiramate and the compounds aft-ii and atx-ii have been mentioned in the context of this disorder. Affiliated tissues include eye, and related mouse phenotypes are behavior/neurological and growth/size/body.

Descriptions from OMIM:46 300672, 308350, 609304, 612164, 613402 613720, 613721, 615473, 613477, 613722, 615006, 312750, 613454 more

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 2

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Sources:
48Orphanet, 62UMLS, 20GeneTests, 22GTR, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Epileptic Encephalopathy, Early Infantile, 2, Aliases & Descriptions:

Name: Epileptic Encephalopathy, Early Infantile, 2 20 22 46
Early Infantile Epileptic Encephalopathy 48 62
Ohtahara Syndrome 48 62
Infantile Spasms 48 62
West Syndrome 48 62
Early Infantile Epileptic Encephalopathy with Suppression-Bursts 48
Early Infantile Epileptic Encephalopathy with Suppression Bursts 62
 
Intellectual Disability - Hypsarrhythmia 48
Rett Syndrome, Atypical 62
Atypical Rett Syndrome 48
Rett Syndrome Variant 48
Rett Syndrome 62
Atypical Rtt 48
Eiee 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
early infantile epileptic encephalopathy:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic,X-linked recessive; Age of onset: Neonatal/infancy; Age of death: Before age 5
infantile spasms:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy
atypical rett syndrome:
Inheritance: Autosomal dominant,X-linked dominant; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age


External Ids:

ICD10 via Orphanet26 G40.3, G40.4
UMLS via Orphanet63 C0393706, C0037769

Related Diseases for Epileptic Encephalopathy, Early Infantile, 2

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Diseases in the Epileptic Encephalopathy, Early Infantile, 2 family:

Infantile Epileptic Encephalopathy Epileptic Encephalopathy, Early Infantile, 4
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 5
Epileptic Encephalopathy, Early Infantile, 13 Epileptic Encephalopathy, Early Infantile, 18
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 24
Epileptic Encephalopathy, Early Infantile, 19 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 26
Epileptic Encephalopathy, Early Infantile, 7 Epileptic Encephalopathy, Early Infantile, 8

Diseases related to Epileptic Encephalopathy, Early Infantile, 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 141)
idRelated DiseaseScoreTop Affiliating Genes
1rett syndrome31.2MECP2, FOXG1, NTNG1, CDKL5
2dravet syndrome31.1SCN8A
3infantile epileptic encephalopathy31.0ARX, CDKL5, MECP2
4ohtahara syndrome30.5SLC25A22, STXBP1, PNKP
5early myoclonic encephalopathy30.5SLC25A22, STXBP1
6hydranencephaly30.4STXBP1
7epilepsy syndrome29.8KCNQ2, MECP2, GRIN2B, CDKL5, ARX
8microcephaly29.8CDKL5, CASK, FOXG1, MECP2
9mental retardation29.5KCNQ2, MECP2, CASK, CDKL5, ARX
10west syndrome11.2
11atypical rett syndrome10.8
12cerebritis10.4
13aicardi syndrome10.4
14gait apraxia10.3CDKL5, MECP2
15agenesis of the corpus callosum10.3
16microcephaly, seizures, and developmental delay10.3
17epileptic encephalopathy, early infantile, 310.3
18malignant migrating partial seizures of infancy10.3
19myoclonus10.3
20epileptic encephalopathy, early infantile, 1810.3
21lennox-gastaut syndrome10.3
22hemimegalencephaly10.3
23encephalitis10.2
24infantile spasms broad thumbs10.2
25pachygyria10.2
26septo-optic dysplasia10.2
27tuberous sclerosis10.2
28periventricular leukomalacia10.2
29leukomalacia10.2
30sleep disorder10.2
31alexander disease10.2
32choroiditis10.2
33polymicrogyria10.2
34sturge-weber syndrome10.2
35weber syndrome10.2
36brain disease10.2MECP2, CDKL5, ARX
37porencephaly10.1
38biotinidase deficiency10.1
39proteus syndrome10.1
40cerebellar hypoplasia10.1
41hypertonia10.1
42down syndrome10.1
43lissencephaly10.1
44neuronitis10.1
45vitamin b12 deficiency10.1
46schinzel giedion syndrome10.1
47blindness10.1
48craniosynostosis10.0
49retinitis pigmentosa10.0
50choroid plexus papilloma10.0

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 2:



Diseases related to epileptic encephalopathy, early infantile, 2

Symptoms for Epileptic Encephalopathy, Early Infantile, 2

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Symptoms by clinical synopsis from OMIM:

300672

Clinical features from OMIM:

300672, 308350, 609304, 612164, 613402, 613720, 613721, 615473, 613477, 613722 615006, 312750, 613454 more

Symptoms:

48 (show all 30)
  • movement disorder
  • tics/stereotypias
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • psychic/psychomotor regression/dementia/intellectual decline
  • psychic/behavioural troubles
  • anomalies of eyes and vision
  • scoliosis
  • fine hair
  • respiratory rhythm disorder
  • acrocyanosis/raynaud's phenomenon/vasomotor disorders
  • eeg anomalies
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • short hand/brachydactyly
  • short foot/brachydactyly of toes
  • cardiac rhythm disorder/arrhythmia
  • dysautonomia/autonomous nervous sytem anomalies
  • hypertonia/spasticity/rigidity/stiffness
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • autism/autistic disoders
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • generalized obesity
  • early death/lethality
  • weight loss/loss of appetite/break in weight curve/general health alteration

HPO human phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

(show all 53)
id Description Frequency HPO Source Accession
1 stereotypic behavior hallmark (90%) HP:0000733
2 developmental regression hallmark (90%) HP:0002376
3 cognitive impairment hallmark (90%) HP:0100543
4 abnormality of the eye typical (50%) HP:0000478
5 acrocyanosis typical (50%) HP:0001063
6 seizures typical (50%) HP:0001250
7 muscular hypotonia typical (50%) HP:0001252
8 gait disturbance typical (50%) HP:0001288
9 neurological speech impairment typical (50%) HP:0002167
10 fine hair typical (50%) HP:0002213
11 incoordination typical (50%) HP:0002311
12 eeg abnormality typical (50%) HP:0002353
13 sleep disturbance typical (50%) HP:0002360
14 scoliosis typical (50%) HP:0002650
15 abnormal pattern of respiration typical (50%) HP:0002793
16 microcephaly occasional (7.5%) HP:0000252
17 autism occasional (7.5%) HP:0000717
18 brachydactyly syndrome occasional (7.5%) HP:0001156
19 hypertonia occasional (7.5%) HP:0001276
20 obesity occasional (7.5%) HP:0001513
21 weight loss occasional (7.5%) HP:0001824
22 short toe occasional (7.5%) HP:0001831
23 abnormality of the autonomic nervous system occasional (7.5%) HP:0002270
24 reduced bone mineral density occasional (7.5%) HP:0004349
25 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
26 arrhythmia occasional (7.5%) HP:0011675
27 thick lower lip vermilion HP:0000179
28 progressive microcephaly HP:0000253
29 broad forehead HP:0000337
30 anteverted nares HP:0000463
31 deeply set eye HP:0000490
32 stereotypic behavior HP:0000733
33 poor eye contact HP:0000817
34 tapered finger HP:0001182
35 muscular hypotonia HP:0001252
36 global developmental delay HP:0001263
37 myoclonus HP:0001336
38 x-linked dominant inheritance HP:0001423
39 short foot HP:0001773
40 constipation HP:0002019
41 gastroesophageal reflux HP:0002020
42 generalized myoclonic seizures HP:0002123
43 intellectual disability, profound HP:0002187
44 developmental regression HP:0002376
45 hypsarrhythmia HP:0002521
46 inability to walk HP:0002540
47 scoliosis HP:0002650
48 hyperventilation HP:0002883
49 infantile onset HP:0003593
50 short palm HP:0004279
51 prominent forehead HP:0011220
52 infantile spasms HP:0012469
53 small hand HP:0200055

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 2

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Drug clinical trials:

Search ClinicalTrials for Epileptic Encephalopathy, Early Infantile, 2

Search NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 2

Inferred drug relations via UMLS62/NDF-RT40:

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 2

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Genetic tests related to Epileptic Encephalopathy, Early Infantile, 2:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 220 CDKL5
2 Early Infantile Epileptic Encephalopathy 222

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 2

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MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 2:

32
Eye

Animal Models for Epileptic Encephalopathy, Early Infantile, 2 or affiliated genes

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MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 2:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053866.8PIGA, KCNQ2, GNAO1, SCN8A, STXBP1, MECP2
2MP:00053786.3SCN8A, GNAO1, KCNQ2, PIGA, MECP2, FOXG1
3MP:00107685.5SCN8A, GNAO1, KCNQ2, PIGA, SPTAN1, STXBP1
4MP:00036315.5ARX, SPTAN1, PIGA, KCNQ2, GNAO1, SCN8A

Publications for Epileptic Encephalopathy, Early Infantile, 2

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Variations for Epileptic Encephalopathy, Early Infantile, 2

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UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1CDKL5p.Cys152PheVAR_023560
2CDKL5p.Arg175SerVAR_023561
3CDKL5p.Pro180LeuVAR_037635
4CDKL5p.Ala40ValVAR_058022
5CDKL5p.Ile72AsnVAR_058023
6CDKL5p.Ile72ThrVAR_058024
7CDKL5p.His127ArgVAR_058025
8CDKL5p.Arg178ProVAR_058026
9CDKL5p.Leu220ProVAR_058027
10CDKL5p.Thr288IleVAR_058028
11CDKL5p.Cys291TyrVAR_058029
12CDKL5p.Asn399ThrVAR_058030
13CDKL5p.Val718MetVAR_058032
14CDKL5p.Arg178GlnVAR_071103

Clinvar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 2:

6 (show all 97)
id Gene Name Type Significance SNP ID Assembly Location
1ARXNM_139058.2(ARX)duplicationPathogenicrs387906493GRCh37Chr X, 25031660: 25031661
2ARXNM_139058.2(ARX): c.1058C> T (p.Pro353Leu)single nucleotide variantPathogenicrs104894743GRCh37Chr X, 25031054: 25031054
3ARXARX, 1,517-BP DELdeletionPathogenic
4ARXARX, 33-BP DUPduplicationPathogenic
5ARXARX, 1-BP DEL, 1465GdeletionPathogenic
6CDKL5CDKL5, 1-BP DEL, 183TdeletionPathogenic
7CDKL5CDKL5, IVSAS13, G-A, -1single nucleotide variantPathogenic
8CDKL5NM_003159.2(CDKL5): c.455G> T (p.Cys152Phe)single nucleotide variantPathogenicrs122460157GRCh37Chr X, 18600062: 18600062
9CDKL5NM_003159.2(CDKL5): c.525A> T (p.Arg175Ser)single nucleotide variantPathogenicrs61749700GRCh37Chr X, 18602444: 18602444
10CDKL5CDKL5, 4-BP DEL, 166GAAAdeletionPathogenic
11CDKL5CDKL5, 2-BP DEL, 2636CTdeletionPathogenic
12CDKL5NM_003159.2(CDKL5): c.2500C> T (p.Gln834Ter)single nucleotide variantPathogenicrs122460158GRCh37Chr X, 18646494: 18646494
13CDKL5CDKL5, IVS6AS, G-T, -1single nucleotide variantPathogenic
14CDKL5NM_003159.2(CDKL5): c.119C> T (p.Ala40Val)single nucleotide variantPathogenicrs122460159GRCh37Chr X, 18582616: 18582616
15CDKL5NM_003159.2(CDKL5): c.215T> C (p.Ile72Thr)single nucleotide variantPathogenicrs62641235GRCh37Chr X, 18593543: 18593543
16CDKL5NM_003159.2(CDKL5): c.863C> T (p.Thr288Ile)single nucleotide variantPathogenicrs267606713GRCh37Chr X, 18616619: 18616619
17CDKL5NM_003159.2(CDKL5): c.872G> A (p.Cys291Tyr)single nucleotide variantPathogenicrs267606714GRCh37Chr X, 18616628: 18616628
18CDKL5CDKL5, 2-BP INS, 903GAinsertionPathogenic
19MECP2NM_001110792.1(MECP2): c.433C> T (p.Arg145Cys)single nucleotide variantPathogenicrs28934904GRCh37Chr X, 153296882: 153296882
20MECP2NM_001110792.1(MECP2): c.500T> C (p.Phe167Ser)single nucleotide variantPathogenicrs28934905GRCh37Chr X, 153296815: 153296815
21MECP2NM_001110792.1(MECP2): c.509C> T (p.Thr170Met)single nucleotide variantPathogenicrs28934906GRCh37Chr X, 153296806: 153296806
22MECP2MECP2, 1-BP DEL, 806GdeletionPathogenic
23MECP2MECP2, 44-BP DEL, NT1152deletionPathogenic
24MECP2NM_001110792.1(MECP2): c.352C> T (p.Arg118Trp)single nucleotide variantPathogenicrs28934907GRCh37Chr X, 153297719: 153297719
25MECP2NM_001110792.1(MECP2): c.844C> T (p.Arg282Ter)single nucleotide variantPathogenicrs61750240GRCh37Chr X, 153296471: 153296471
26MECP2MECP2, IVS2, A-G, -2single nucleotide variantPathogenic
27MECP2NM_001110792.1(MECP2): c.203_204delCC (p.Pro68Argfs)deletionPathogenicrs267608434GRCh37Chr X, 153297867: 153297868
28MECP2NM_001110792.1(MECP2): c.916C> T (p.Arg306Ter)single nucleotide variantPathogenicrs61751362GRCh37Chr X, 153296399: 153296399
29MECP2MECP2, 41-BP DEL, NT1159deletionPathogenic
30MECP2NM_001110792.1(MECP2): c.455C> T (p.Ala152Val)single nucleotide variantPathogenicrs28934908GRCh37Chr X, 153296860: 153296860
31MECP2NM_001110792.1(MECP2): c.952C> T (p.Arg318Cys)single nucleotide variantPathogenicrs28935468GRCh37Chr X, 153296363: 153296363
32MECP2MECP2, 1-BP DEL, 76CdeletionPathogenic
33MECP2MECP2, 14-BP DUP, NT766duplicationPathogenic
34MECP2NM_001110792.1(MECP2): c.538C> T (p.Arg180Ter)single nucleotide variantPathogenicrs61748421GRCh37Chr X, 153296777: 153296777
35MECP2NM_001110792.1(MECP2): c.799C> T (p.Arg267Ter)single nucleotide variantPathogenicrs61749721GRCh37Chr X, 153296516: 153296516
36MECP2NM_001110792.1(MECP2): c.1399G> T (p.Glu467Ter)single nucleotide variantPathogenicrs104894864GRCh37Chr X, 153295916: 153295916
37MECP2NM_001110792.1(MECP2): c.334C> G (p.Leu112Val)single nucleotide variantPathogenicrs28935168GRCh37Chr X, 153297737: 153297737
38MECP2MECP2, 11-BP DEL, EX1deletionPathogenic
39MECP2MECP2, 5-BP DUP, EX1duplicationPathogenic
40MECP2MECP2, 1-BP DEL AND 2-BP INSindelPathogenic
41MECP2MECP2, 2-BP DEL, 488GGdeletionPathogenic
42MECP2NM_001110792.1(MECP2): c.5C> T (p.Ala2Val)single nucleotide variantPathogenicrs179363901GRCh37Chr X, 153363118: 153363118
43MECP2NM_001110792.1(MECP2): c.746delG (p.Gly249Valfs)deletionPathogenicrs61749743GRCh37Chr X, 153296569: 153296569
44KCNQ2NM_172107.2(KCNQ2): c.794C> T (p.Ala265Val)single nucleotide variantPathogenicGRCh37Chr 20, 62073781: 62073781
45SLC25A22NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg)single nucleotide variantPathogenicGRCh38Chr 11, 792954: 792954
46STXBP1NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys)single nucleotide variantPathogenicGRCh37Chr 9, 130430411: 130430411
47SPTAN1SPTAN1, 3-BP DEL, 6619GAGdeletionPathogenic
48SPTAN1SPTAN1, 6-BP DUP, NT6923duplicationPathogenic
49KCNQ2NM_172107.2(KCNQ2): c.1197delT (p.Ser399Argfs)deletionPathogenicGRCh37Chr 20, 62059740: 62059740
50SCN8ANM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu)single nucleotide variantLikely pathogenicGRCh37Chr 12, 52188404: 52188404
51NECAP1NM_015509.3(NECAP1): c.142C> T (p.Arg48Ter)single nucleotide variantPathogenicGRCh37Chr 12, 8242578: 8242578
52SCN8ANM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln)single nucleotide variantLikely pathogenicGRCh37Chr 12, 52159459: 52159459
53FOXG1NM_005249.4(FOXG1): c.765G> A (p.Trp255Ter)single nucleotide variantPathogenicrs121913678GRCh37Chr 14, 29237250: 29237250
54FOXG1FOXG1, 1-BP DEL, 969CdeletionPathogenic
55FOXG1NM_005249.4(FOXG1): c.624C> G (p.Tyr208Ter)single nucleotide variantPathogenicrs267606826GRCh37Chr 14, 29237109: 29237109
56FOXG1NM_005249.4(FOXG1): c.643T> C (p.Phe215Leu)single nucleotide variantPathogenicrs267606828GRCh37Chr 14, 29237128: 29237128
57FOXG1NM_005249.4(FOXG1): c.924G> A (p.Trp308Ter)single nucleotide variantPathogenicrs267606827GRCh37Chr 14, 29237409: 29237409
58FOXG1NM_005249.4(FOXG1): c.1200C> G (p.Tyr400Ter)single nucleotide variantPathogenicrs138747073GRCh37Chr 14, 29237685: 29237685
59SLC25A22NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu)single nucleotide variantPathogenicrs121918334GRCh37Chr 11, 792429: 792429
60SLC25A22NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp)single nucleotide variantPathogenicrs121918335GRCh37Chr 11, 792340: 792340
61CDKL5NM_003159.2(CDKL5): c.533G> C (p.Arg178Pro)single nucleotide variantPathogenicrs267606715GRCh37Chr X, 18602452: 18602452
62FOXG1FOXG1, 1-BP DUP, 460GduplicationPathogenic
63SCN2ANM_001040142.1(SCN2A): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs387906683GRCh37Chr 2, 166153563: 166153563
64SCN2ANM_001040142.1(SCN2A): c.3631G> A (p.Glu1211Lys)single nucleotide variantPathogenicrs387906684GRCh37Chr 2, 166223837: 166223837
65SCN2ANM_001040142.1(SCN2A): c.4419A> G (p.Ile1473Met)single nucleotide variantPathogenicrs387906685GRCh37Chr 2, 166237212: 166237212
66SCN2ANM_001040142.1(SCN2A): c.788C> T (p.Ala263Val)single nucleotide variantPathogenicrs387906686GRCh37Chr 2, 166166923: 166166923
67ARXNM_139058.2(ARX)duplicationPathogenicGRCh37Chr X, 25031651: 25031677
68ARXNM_139058.2(ARX): c.81C> G (p.Tyr27Ter)single nucleotide variantPathogenicrs398122854GRCh37Chr X, 25033774: 25033774
69ARXNM_139058.2(ARX): c.1604T> A (p.Leu535Gln)single nucleotide variantPathogenicrs387906715GRCh37Chr X, 25022872: 25022872
70SCN8ANM_014191.3(SCN8A): c.5302A> G (p.Asn1768Asp)single nucleotide variantPathogenicrs202151337GRCh37Chr 12, 52200572: 52200572
71PLCB1PLCB1, 0.5-MB DELdeletionPathogenic
72SPTAN1NM_001130438.2(SPTAN1): c.6605_6607delAGC (p.Gln2202del)deletionPathogenicrs398122865GRCh37Chr 9, 131389693: 131389695
73MECP2NM_001110792.1(MECP2): c.1187C> T (p.Pro396Leu)single nucleotide variantLikely pathogenicrs193922676GRCh37Chr X, 153296128: 153296128
74MECP2NM_001110792.1(MECP2): c.1363G> A (p.Ala455Thr)single nucleotide variantLikely pathogenicrs193922677GRCh37Chr X, 153295952: 153295952
75MECP2NM_001110792.1(MECP2): c.1477G> A (p.Val493Met)single nucleotide variantLikely pathogenicrs193922678GRCh37Chr X, 153295838: 153295838
76MECP2NM_001110792.1(MECP2): c.610A> T (p.Lys204Ter)single nucleotide variantLikely pathogenicrs193922679GRCh37Chr X, 153296705: 153296705
77MECP2NM_001110792.1(MECP2): c.934G> A (p.Val312Ile)single nucleotide variantLikely pathogenicrs61751370GRCh37Chr X, 153296381: 153296381
78MECP2NM_001110792.1(MECP2): c.945C> G (p.Ile315Met)single nucleotide variantLikely pathogenicrs61751439GRCh37Chr X, 153296370: 153296370
79MECP2NM_001110792.1(MECP2): c.968C> T (p.Thr323Met)single nucleotide variantLikely pathogenicrs61751445GRCh37Chr X, 153296347: 153296347
80ST3GAL3ST3GAL3, ALA320PROsingle nucleotide variantPathogenic
81KCNQ2NM_172107.2(KCNQ2): c.638G> A (p.Arg213Gln)single nucleotide variantLikely pathogenicrs397514581GRCh37Chr 20, 62076064: 62076064
82KCNQ2NM_172107.2(KCNQ2): c.1636A> G (p.Met546Val)single nucleotide variantPathogenicrs397515420GRCh37Chr 20, 62044930: 62044930
83KCNQ2NM_172107.2(KCNQ2): c.869G> A (p.Gly290Asp)single nucleotide variantPathogenicrs397514582GRCh37Chr 20, 62071009: 62071009
84SCN8ANM_014191.3(SCN8A): c.3991C> G (p.Leu1331Val)single nucleotide variantPathogenicrs397514738GRCh37Chr 12, 52180374: 52180374
85GNAO1NM_020988.2(GNAO1): c.836T> A (p.Ile279Asn)single nucleotide variantPathogenicGRCh37Chr 16, 56385408: 56385408
86GNAO1NM_020988.2(GNAO1): c.521A> G (p.Asp174Gly)single nucleotide variantPathogenicGRCh37Chr 16, 56368697: 56368697
87GNAO1NM_020988.2(GNAO1): c.572_592del21 (p.Thr191_Phe197del)deletionPathogenicGRCh37Chr 16, 56368748: 56368768
88GNAO1NM_020988.2(GNAO1): c.607G> A (p.Gly203Arg)single nucleotide variantPathogenicGRCh37Chr 16, 56370656: 56370656
89STXBP1NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp)single nucleotide variantPathogenicrs121918317GRCh37Chr 9, 130444768: 130444768
90STXBP1NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr)single nucleotide variantPathogenicrs121918318GRCh37Chr 9, 130425593: 130425593
91STXBP1NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg)single nucleotide variantPathogenicrs121918319GRCh37Chr 9, 130439001: 130439001
92STXBP1NM_003165.3(STXBP1): c.251T> A (p.Val84Asp)single nucleotide variantPathogenicrs121918320GRCh37Chr 9, 130422313: 130422313
93STXBP1NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter)single nucleotide variantPathogenicrs121918321GRCh37Chr 9, 130438134: 130438134
94STXBP1NM_003165.3(STXBP1): c.169+1G> Asingle nucleotide variantPathogenicGRCh37Chr 9, 130416076: 130416076
95KCNQ2KCNQ2, 10-BP DEL/1-BP INS, NT761indelPathogenic
96KCNQ2NM_172107.2(KCNQ2): c.1662G> T (p.Lys554Asn)single nucleotide variantPathogenicrs267607198GRCh37Chr 20, 62044904: 62044904
97KCNQ2NM_172107.2(KCNQ2): c.740C> G (p.Ser247Trp)single nucleotide variantPathogenicrs74315392GRCh37Chr 20, 62073835: 62073835

Expression for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Expression patterns in normal tissues for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 2.

Pathways for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Compounds for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Compounds related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards/GeneDecks:

(show top 50)    (show all 389)
idCompoundScoreTop Affiliating Genes
1aft-ii2810.3SCN2A, SCN8A
2atx-ii2810.3SCN2A, SCN8A
3bc-iii2810.3SCN2A, SCN8A
4saxitoxin2810.3SCN2A, SCN8A
5batrachotoxin2810.3SCN8A, SCN2A
6PIP(20:2(11Z,14Z)/18:2(9Z,12Z))249.7PIGA, PIGQ, PLCB1
7PIP(20:4(8Z,11Z,14Z,17Z)/16:0)249.7PLCB1, PIGQ, PIGA
8PIP(20:4(8Z,11Z,14Z,17Z)/18:0)249.7PLCB1, PIGQ, PIGA
9PIP2(16:0/18:2(9Z,12Z))249.7PLCB1, PIGQ, PIGA
10PIP2(16:0/20:1(11Z))249.7PLCB1, PIGQ, PIGA
11PIP2(16:1(9Z)/18:1(11Z))249.6PLCB1, PIGQ, PIGA
12PIP(20:2(11Z,14Z)/18:0)249.6PIGA, PLCB1, PIGQ
13PIP(18:1(9Z)/16:0)249.6PLCB1, PIGQ, PIGA
14PIP(18:1(9Z)/16:1(9Z))249.6PLCB1, PIGQ, PIGA
15PIP(18:2(9Z,12Z)/18:2(9Z,12Z))249.6PLCB1, PIGQ, PIGA
16PIP(18:2(9Z,12Z)/20:0)249.6PLCB1, PIGQ, PIGA
17PIP(18:0/20:3(8Z,11Z,14Z))249.6PIGA, PIGQ, PLCB1
18PIP2(16:1(9Z)/18:1(9Z))249.6PLCB1, PIGQ, PIGA
19PIP2(18:2(9Z,12Z)/20:0)249.6PLCB1, PIGQ, PIGA
20PIP2(20:1(11Z)/18:2(9Z,12Z))249.6PLCB1, PIGQ, PIGA
21PIP2(20:2(11Z,14Z)/16:0)249.6PLCB1, PIGQ, PIGA
22PIP2(20:4(5Z,8Z,11Z,14Z)/18:1(11Z))249.6PLCB1, PIGQ, PIGA
23PIP2(20:4(5Z,8Z,11Z,14Z)/18:1(9Z))249.6PLCB1, PIGQ, PIGA
24PIP2(18:2(9Z,12Z)/18:2(9Z,12Z))249.6PIGA, PIGQ, PLCB1
25PIP2(18:0/20:4(5Z,8Z,11Z,14Z))249.6PLCB1, PIGQ, PIGA
26PIP2(18:0/20:4(8Z,11Z,14Z,17Z))249.6PLCB1, PIGQ, PIGA
27PIP2(18:1(9Z)/16:1(9Z))249.6PLCB1, PIGQ, PIGA
28PIP2(18:1(9Z)/18:0)249.6PLCB1, PIGQ, PIGA
29PI(16:0/22:2(13Z,16Z))249.6PLCB1, PIGQ, PIGA
30PI(18:1(11Z)/18:1(11Z))249.6PLCB1, PIGQ, PIGA
31PI(18:1(9Z)/18:3(6Z,9Z,12Z))249.6PLCB1, PIGQ, PIGA
32PI(18:1(9Z)/18:3(9Z,12Z,15Z))249.6PLCB1, PIGQ, PIGA
33PI(18:2(9Z,12Z)/20:3(8Z,11Z,14Z))249.5PLCB1, PIGQ, PIGA
34PI(18:2(9Z,12Z)/22:2(13Z,16Z))249.5PLCB1, PIGQ, PIGA
35PI(18:1(11Z)/16:1(9Z))249.5PIGA, PIGQ, PLCB1
36PI(16:0/22:3(10Z,13Z,16Z))249.5PLCB1, PIGQ, PIGA
37PI(16:0/22:4(10Z,13Z,16Z,19Z))249.5PLCB1, PIGQ, PIGA
38PI(18:0/16:2(9Z,12Z))249.5PLCB1, PIGQ, PIGA
39PI(18:0/18:0)249.5PLCB1, PIGQ, PIGA
40PI(20:1(11Z)/18:1(9Z))249.5PLCB1, PIGQ, PIGA
41PI(22:5(7Z,10Z,13Z,16Z,19Z)/18:0)249.4PIGQ, PIGA, PLCB1
42PI(22:6(4Z,7Z,10Z,13Z,16Z,19Z)/18:0)249.4PLCB1, PIGQ, PIGA
43PIP(16:0/22:5(7Z,10Z,13Z,16Z,19Z))249.4PLCB1, PIGQ, PIGA
44PIP(16:1(9Z)/16:1(9Z))249.4PLCB1, PIGQ, PIGA
45PIP(18:0/20:3(5Z,8Z,11Z))249.3PLCB1, PIGQ, PIGA
46PI(20:4(8Z,11Z,14Z,17Z)/20:1(11Z))249.3PIGA, PIGQ, PLCB1
47PI(20:1(11Z)/18:2(9Z,12Z))249.2PLCB1, PIGQ, PIGA
48PI(20:4(8Z,11Z,14Z,17Z)/20:0)249.2PLCB1, PIGQ, PIGA
49PI(20:3(8Z,11Z,14Z)/18:0)249.1PLCB1, PIGQ, PIGA
50PI(20:3(8Z,11Z,14Z)/18:1(11Z))248.9PLCB1, PIGQ, PIGA

GO Terms for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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Cellular components related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel complexGO:0015189.9SCN2A, SCN8A
2node of RanvierGO:0332689.5SCN2A, SCN8A, KCNQ2
3axon initial segmentGO:0431949.5SCN8A, KCNQ2
4glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complexGO:0005069.3PIGQ, PIGA

Biological processes related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1startle responseGO:0019649.7GRIN2B, MECP2
2glutamate receptor signaling pathwayGO:0072159.5PLCB1, GRIN2B
3axon guidanceGO:0074119.3ARX, SCN8A, KCNQ2, SPTAN1
4nucleotide phosphorylationGO:0469399.2PNKP, CASK
5preassembly of GPI anchor in ER membraneGO:0162549.1PIGQ, PIGA
6synaptic transmissionGO:0072689.0GRIN2B, PLCB1, STXBP1, KCNQ2

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated sodium channel activityGO:0052489.9SCN2A, SCN8A
2phosphatidylinositol N-acetylglucosaminyltransferase activityGO:0171769.1PIGQ, PIGA

Products for genes affiliated with Epileptic Encephalopathy, Early Infantile, 2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Epileptic Encephalopathy, Early Infantile, 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet