MCID: EPL023
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 11

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 11

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 11:

Name: Epileptic Encephalopathy, Early Infantile, 11 57 75 13 73
Early Infantile Epileptic Encephalopathy 11 29 6
Eiee11 57 75
Encephalopathy, Epileptic, Early Infantile, Type 11 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
seizures are refractory
variable severity


HPO:

32
epileptic encephalopathy, early infantile, 11:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset variable expressivity


Classifications:



External Ids:

OMIM 57 613721
MedGen 42 C3150987
MeSH 44 D013036
UMLS 73 C3150987

Summaries for Epileptic Encephalopathy, Early Infantile, 11

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 11: An autosomal dominant seizure disorder characterized by neonatal or infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 11, is also known as early infantile epileptic encephalopathy 11. An important gene associated with Epileptic Encephalopathy, Early Infantile, 11 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2). Related phenotypes are global developmental delay and spastic tetraplegia

OMIM : 57 Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (613721)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 11

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures, tonic-clonic
delayed psychomotor development
febrile seizures may occur
status epilepticus
spastic quadriplegia
more

Clinical features from OMIM:

613721

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 11:

32
# Description HPO Frequency HPO Source Accession
1 global developmental delay 32 HP:0001263
2 spastic tetraplegia 32 HP:0002510
3 generalized tonic-clonic seizures 32 HP:0002069
4 status epilepticus 32 HP:0002133
5 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 11

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 11

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 11

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 11:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 11 29 SCN2A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 11

Publications for Epileptic Encephalopathy, Early Infantile, 11

Variations for Epileptic Encephalopathy, Early Infantile, 11

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 11:

75 (show all 47)
# Symbol AA change Variation ID SNP ID
1 SCN2A p.Ala263Val VAR_065178 rs387906686
2 SCN2A p.Glu1211Lys VAR_065180 rs387906684
3 SCN2A p.Ile1473Met VAR_065181 rs387906685
4 SCN2A p.Glu169Gly VAR_069996
5 SCN2A p.Asn212Asp VAR_069997
6 SCN2A p.Val213Asp VAR_069998
7 SCN2A p.Thr236Ser VAR_069999
8 SCN2A p.Ala263Thr VAR_070000
9 SCN2A p.Arg853Gln VAR_070001 rs794727152
10 SCN2A p.Asn876Thr VAR_070002
11 SCN2A p.Glu999Lys VAR_070003 rs796053126
12 SCN2A p.Met1323Val VAR_070004 rs1057519523Epileptic
13 SCN2A p.Val1326Leu VAR_070005
14 SCN2A p.Ser1336Tyr VAR_070006
15 SCN2A p.Met1338Thr VAR_070007
16 SCN2A p.Thr1623Asn VAR_070009
17 SCN2A p.Arg1629Leu VAR_070010
18 SCN2A p.Arg1312Thr VAR_073429
19 SCN2A p.Val251Ile VAR_078196 rs1057519528Epileptic
20 SCN2A p.Ala896Val VAR_078197 rs1057519526Epileptic
21 SCN2A p.Ala1316Val VAR_078198 rs796053130
22 SCN2A p.Cys1344Tyr VAR_078199 rs1057519527Epileptic
23 SCN2A p.Met1548Thr VAR_078200 rs1057519524Epileptic
24 SCN2A p.Arg1882Gln VAR_078201 rs794727444
25 SCN2A p.Asn132Lys VAR_078451
26 SCN2A p.Met136Ile VAR_078452
27 SCN2A p.Glu430Gly VAR_078457 rs796053183
28 SCN2A p.Arg856Leu VAR_078460
29 SCN2A p.Lys905Asn VAR_078461 rs796053119
30 SCN2A p.Phe928Cys VAR_078463
31 SCN2A p.Val1326Asp VAR_078472 rs796053131
32 SCN2A p.Leu1342Pro VAR_078473 rs796053134
33 SCN2A p.Gly1593Arg VAR_078479 rs886041259
34 SCN2A p.Gly1634Val VAR_078482
35 SCN2A p.Leu1660Trp VAR_078483
36 SCN2A p.Arg1882Leu VAR_078486 rs794727444
37 SCN2A p.Gly211Asp VAR_078730
38 SCN2A p.Arg220Gly VAR_078731
39 SCN2A p.Ile873Met VAR_078735
40 SCN2A p.Ser987Ile VAR_078736 rs796053124
41 SCN2A p.Glu999Val VAR_078737
42 SCN2A p.Lys1260Glu VAR_078738
43 SCN2A p.Lys1260Gln VAR_078739
44 SCN2A p.Gln1479Pro VAR_078744
45 SCN2A p.Leu1650Pro VAR_078748
46 SCN2A p.Leu1829Phe VAR_078750
47 SCN2A p.His1853Arg VAR_078751

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 11:

6
(show top 50) (show all 258)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2A NM_001040142.1(SCN2A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs387906683 GRCh37 Chromosome 2, 166153563: 166153563
2 SCN2A NM_001040142.1(SCN2A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs387906683 GRCh38 Chromosome 2, 165297053: 165297053
3 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh37 Chromosome 2, 166223837: 166223837
4 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh38 Chromosome 2, 165367327: 165367327
5 SCN2A NM_001040142.1(SCN2A): c.4419A> G (p.Ile1473Met) single nucleotide variant Pathogenic rs387906685 GRCh37 Chromosome 2, 166237212: 166237212
6 SCN2A NM_001040142.1(SCN2A): c.4419A> G (p.Ile1473Met) single nucleotide variant Pathogenic rs387906685 GRCh38 Chromosome 2, 165380702: 165380702
7 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh37 Chromosome 2, 166166923: 166166923
8 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh38 Chromosome 2, 165310413: 165310413
9 SCN2A NM_001040142.1(SCN2A): c.1178C> A (p.Thr393Lys) single nucleotide variant Likely pathogenic rs794727003 GRCh37 Chromosome 2, 166170413: 166170413
10 SCN2A NM_001040142.1(SCN2A): c.1178C> A (p.Thr393Lys) single nucleotide variant Likely pathogenic rs794727003 GRCh38 Chromosome 2, 165313903: 165313903
11 SCN2A NM_021007.2(SCN2A): c.2558G> A (p.Arg853Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727152 GRCh37 Chromosome 2, 166198975: 166198975
12 SCN2A NM_021007.2(SCN2A): c.2558G> A (p.Arg853Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727152 GRCh38 Chromosome 2, 165342465: 165342465
13 SCN2A NM_021007.2(SCN2A): c.5505C> T (p.Asn1835=) single nucleotide variant Conflicting interpretations of pathogenicity rs6706924 GRCh37 Chromosome 2, 166245821: 166245821
14 SCN2A NM_021007.2(SCN2A): c.5505C> T (p.Asn1835=) single nucleotide variant Conflicting interpretations of pathogenicity rs6706924 GRCh38 Chromosome 2, 165389311: 165389311
15 SCN2A NM_021007.2(SCN2A): c.5645G> A (p.Arg1882Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727444 GRCh37 Chromosome 2, 166245961: 166245961
16 SCN2A NM_021007.2(SCN2A): c.5645G> A (p.Arg1882Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727444 GRCh38 Chromosome 2, 165389451: 165389451
17 SCN2A NM_021007.2(SCN2A): c.82C> T (p.Arg28Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200884216 GRCh37 Chromosome 2, 166152415: 166152415
18 SCN2A NM_021007.2(SCN2A): c.82C> T (p.Arg28Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs200884216 GRCh38 Chromosome 2, 165295905: 165295905
19 SCN2A NM_021007.2(SCN2A): c.100G> A (p.Ala34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144814658 GRCh37 Chromosome 2, 166152433: 166152433
20 SCN2A NM_021007.2(SCN2A): c.100G> A (p.Ala34Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs144814658 GRCh38 Chromosome 2, 165295923: 165295923
21 SCN2A NM_021007.2(SCN2A): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs181327458 GRCh38 Chromosome 2, 165310448: 165310448
22 SCN2A NM_021007.2(SCN2A): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs181327458 GRCh37 Chromosome 2, 166166958: 166166958
23 SCN2A NM_021007.2(SCN2A): c.952G> A (p.Glu318Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs149987700 GRCh37 Chromosome 2, 166167087: 166167087
24 SCN2A NM_021007.2(SCN2A): c.952G> A (p.Glu318Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs149987700 GRCh38 Chromosome 2, 165310577: 165310577
25 SCN2A NM_021007.2(SCN2A): c.1147C> G (p.Gln383Glu) single nucleotide variant Pathogenic rs796053178 GRCh38 Chromosome 2, 165313732: 165313732
26 SCN2A NM_021007.2(SCN2A): c.1147C> G (p.Gln383Glu) single nucleotide variant Pathogenic rs796053178 GRCh37 Chromosome 2, 166170242: 166170242
27 SCN2A NM_021007.2(SCN2A): c.1267G> C (p.Val423Leu) single nucleotide variant Likely pathogenic rs796053180 GRCh38 Chromosome 2, 165313992: 165313992
28 SCN2A NM_021007.2(SCN2A): c.1267G> C (p.Val423Leu) single nucleotide variant Likely pathogenic rs796053180 GRCh37 Chromosome 2, 166170502: 166170502
29 SCN2A NM_021007.2(SCN2A): c.1841C> T (p.Pro614Leu) single nucleotide variant Uncertain significance rs143734912 GRCh37 Chromosome 2, 166179835: 166179835
30 SCN2A NM_021007.2(SCN2A): c.1841C> T (p.Pro614Leu) single nucleotide variant Uncertain significance rs143734912 GRCh38 Chromosome 2, 165323325: 165323325
31 SCN2A NM_021007.2(SCN2A): c.1976G> A (p.Gly659Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs368887417 GRCh37 Chromosome 2, 166179970: 166179970
32 SCN2A NM_021007.2(SCN2A): c.1976G> A (p.Gly659Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs368887417 GRCh38 Chromosome 2, 165323460: 165323460
33 SCN2A NM_021007.2(SCN2A): c.2149+8A> G single nucleotide variant Benign rs199897920 GRCh38 Chromosome 2, 165326992: 165326992
34 SCN2A NM_021007.2(SCN2A): c.2149+8A> G single nucleotide variant Benign rs199897920 GRCh37 Chromosome 2, 166183502: 166183502
35 SCN2A NM_021007.2(SCN2A): c.2635G> A (p.Gly879Arg) single nucleotide variant Pathogenic rs796053115 GRCh37 Chromosome 2, 166201137: 166201137
36 SCN2A NM_021007.2(SCN2A): c.2635G> A (p.Gly879Arg) single nucleotide variant Pathogenic rs796053115 GRCh38 Chromosome 2, 165344627: 165344627
37 SCN2A NM_021007.2(SCN2A): c.2657T> C (p.Leu886Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs796053118 GRCh38 Chromosome 2, 165344649: 165344649
38 SCN2A NM_021007.2(SCN2A): c.2657T> C (p.Leu886Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs796053118 GRCh37 Chromosome 2, 166201159: 166201159
39 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742
40 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh38 Chromosome 2, 165354232: 165354232
41 SCN2A NM_021007.2(SCN2A): c.2995G> A (p.Glu999Lys) single nucleotide variant Pathogenic/Likely pathogenic rs796053126 GRCh38 Chromosome 2, 165354267: 165354267
42 SCN2A NM_021007.2(SCN2A): c.2995G> A (p.Glu999Lys) single nucleotide variant Pathogenic/Likely pathogenic rs796053126 GRCh37 Chromosome 2, 166210777: 166210777
43 SCN2A NM_021007.2(SCN2A): c.3190G> T (p.Asp1064Tyr) single nucleotide variant Uncertain significance rs769395683 GRCh37 Chromosome 2, 166210972: 166210972
44 SCN2A NM_021007.2(SCN2A): c.3190G> T (p.Asp1064Tyr) single nucleotide variant Uncertain significance rs769395683 GRCh38 Chromosome 2, 165354462: 165354462
45 SCN2A NM_021007.2(SCN2A): c.3259G> A (p.Val1087Met) single nucleotide variant Uncertain significance rs765278777 GRCh37 Chromosome 2, 166211041: 166211041
46 SCN2A NM_021007.2(SCN2A): c.3259G> A (p.Val1087Met) single nucleotide variant Uncertain significance rs765278777 GRCh38 Chromosome 2, 165354531: 165354531
47 SCN2A NM_021007.2(SCN2A): c.3372C> T (p.Ser1124=) single nucleotide variant Conflicting interpretations of pathogenicity rs571408286 GRCh37 Chromosome 2, 166211154: 166211154
48 SCN2A NM_021007.2(SCN2A): c.3372C> T (p.Ser1124=) single nucleotide variant Conflicting interpretations of pathogenicity rs571408286 GRCh38 Chromosome 2, 165354644: 165354644
49 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh38 Chromosome 2, 165365200: 165365200
50 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh37 Chromosome 2, 166221710: 166221710

Expression for Epileptic Encephalopathy, Early Infantile, 11

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 11.

Pathways for Epileptic Encephalopathy, Early Infantile, 11

GO Terms for Epileptic Encephalopathy, Early Infantile, 11

Sources for Epileptic Encephalopathy, Early Infantile, 11

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
Content
Loading form....