EIEE11
MCID: EPL023
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 11 (EIEE11)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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
variable severity
seizures are refractory


HPO:

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


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). Affiliated tissues include liver and eye, and 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
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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 11

Symptoms via clinical synopsis from OMIM:

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

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 11:

41
Liver, Eye

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 rs123504453
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 rs105751952
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 rs105751952
20 SCN2A p.Ala896Val VAR_078197 rs105751952
21 SCN2A p.Ala1316Val VAR_078198 rs796053130
22 SCN2A p.Cys1344Tyr VAR_078199 rs105751952
23 SCN2A p.Met1548Thr VAR_078200 rs105751952
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 380)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2A NM_021007.2(SCN2A): c.2674G> A (p.Val892Ile) single nucleotide variant Pathogenic rs121917751 GRCh37 Chromosome 2, 166201176: 166201176
2 SCN2A NM_021007.2(SCN2A): c.2674G> A (p.Val892Ile) single nucleotide variant Pathogenic rs121917751 GRCh38 Chromosome 2, 165344666: 165344666
3 SCN2A NM_021007.2(SCN2A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs387906683 GRCh37 Chromosome 2, 166153563: 166153563
4 SCN2A NM_021007.2(SCN2A): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs387906683 GRCh38 Chromosome 2, 165297053: 165297053
5 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh37 Chromosome 2, 166223837: 166223837
6 SCN2A NM_021007.2(SCN2A): c.3631G> A (p.Glu1211Lys) single nucleotide variant Pathogenic/Likely pathogenic rs387906684 GRCh38 Chromosome 2, 165367327: 165367327
7 SCN2A NM_001040142.1(SCN2A): c.4419A> G (p.Ile1473Met) single nucleotide variant Pathogenic rs387906685 GRCh37 Chromosome 2, 166237212: 166237212
8 SCN2A NM_001040142.1(SCN2A): c.4419A> G (p.Ile1473Met) single nucleotide variant Pathogenic rs387906685 GRCh38 Chromosome 2, 165380702: 165380702
9 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh37 Chromosome 2, 166166923: 166166923
10 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh38 Chromosome 2, 165310413: 165310413
11 SCN2A NM_021007.2(SCN2A): c.1269G> A (p.Val423=) single nucleotide variant Conflicting interpretations of pathogenicity rs139815570 GRCh37 Chromosome 2, 166170504: 166170504
12 SCN2A NM_021007.2(SCN2A): c.1269G> A (p.Val423=) single nucleotide variant Conflicting interpretations of pathogenicity rs139815570 GRCh38 Chromosome 2, 165313994: 165313994
13 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh37 Chromosome 2, 166170611: 166170611
14 SCN2A NM_021007.2(SCN2A): c.1376A> C (p.Glu459Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs184769423 GRCh38 Chromosome 2, 165314101: 165314101
15 SCN2A NM_021007.2(SCN2A): c.4565G> C (p.Gly1522Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147522594 GRCh37 Chromosome 2, 166243269: 166243269
16 SCN2A NM_021007.2(SCN2A): c.4565G> C (p.Gly1522Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs147522594 GRCh38 Chromosome 2, 165386759: 165386759
17 SCN2A NM_021007.2(SCN2A): c.1785T> C (p.Asp595=) single nucleotide variant Benign/Likely benign rs141815642 GRCh37 Chromosome 2, 166179779: 166179779
18 SCN2A NM_021007.2(SCN2A): c.1785T> C (p.Asp595=) single nucleotide variant Benign/Likely benign rs141815642 GRCh38 Chromosome 2, 165323269: 165323269
19 SCN2A NM_021007.2(SCN2A): c.1842G> T (p.Pro614=) single nucleotide variant Benign/Likely benign rs114315466 GRCh37 Chromosome 2, 166179836: 166179836
20 SCN2A NM_021007.2(SCN2A): c.1842G> T (p.Pro614=) single nucleotide variant Benign/Likely benign rs114315466 GRCh38 Chromosome 2, 165323326: 165323326
21 SCN2A NM_021007.2(SCN2A): c.2723A> G (p.Lys908Arg) single nucleotide variant Benign/Likely benign rs2228980 GRCh37 Chromosome 2, 166201225: 166201225
22 SCN2A NM_021007.2(SCN2A): c.2723A> G (p.Lys908Arg) single nucleotide variant Benign/Likely benign rs2228980 GRCh38 Chromosome 2, 165344715: 165344715
23 SCN2A NM_021007.2(SCN2A): c.387-10G> A single nucleotide variant Benign rs2304015 GRCh37 Chromosome 2, 166164348: 166164348
24 SCN2A NM_021007.2(SCN2A): c.387-10G> A single nucleotide variant Benign rs2304015 GRCh38 Chromosome 2, 165307838: 165307838
25 SCN2A NM_021007.2(SCN2A): c.5910G> A (p.Thr1970=) single nucleotide variant Benign/Likely benign rs75057869 GRCh37 Chromosome 2, 166246226: 166246226
26 SCN2A NM_021007.2(SCN2A): c.5910G> A (p.Thr1970=) single nucleotide variant Benign/Likely benign rs75057869 GRCh38 Chromosome 2, 165389716: 165389716
27 SCN2A NM_021007.2(SCN2A): c.5919C> T (p.Pro1973=) single nucleotide variant Benign rs73025979 GRCh37 Chromosome 2, 166246235: 166246235
28 SCN2A NM_021007.2(SCN2A): c.5919C> T (p.Pro1973=) single nucleotide variant Benign rs73025979 GRCh38 Chromosome 2, 165389725: 165389725
29 SCN2A NM_021007.2(SCN2A): c.2955C> T (p.Ser985=) single nucleotide variant Conflicting interpretations of pathogenicity rs149859004 GRCh37 Chromosome 2, 166210737: 166210737
30 SCN2A NM_021007.2(SCN2A): c.2955C> T (p.Ser985=) single nucleotide variant Conflicting interpretations of pathogenicity rs149859004 GRCh38 Chromosome 2, 165354227: 165354227
31 SCN2A NM_021007.2(SCN2A): c.3453C> T (p.Pro1151=) single nucleotide variant Benign/Likely benign rs145662546 GRCh37 Chromosome 2, 166221706: 166221706
32 SCN2A NM_021007.2(SCN2A): c.3453C> T (p.Pro1151=) single nucleotide variant Benign/Likely benign rs145662546 GRCh38 Chromosome 2, 165365196: 165365196
33 SCN2A NM_021007.2(SCN2A): c.3579C> A (p.Leu1193=) single nucleotide variant Conflicting interpretations of pathogenicity rs367546924 GRCh37 Chromosome 2, 166223785: 166223785
34 SCN2A NM_021007.2(SCN2A): c.3579C> A (p.Leu1193=) single nucleotide variant Conflicting interpretations of pathogenicity rs367546924 GRCh38 Chromosome 2, 165367275: 165367275
35 SCN2A NM_021007.2(SCN2A): c.3594G> A (p.Arg1198=) single nucleotide variant Benign/Likely benign rs140194137 GRCh37 Chromosome 2, 166223800: 166223800
36 SCN2A NM_021007.2(SCN2A): c.3594G> A (p.Arg1198=) single nucleotide variant Benign/Likely benign rs140194137 GRCh38 Chromosome 2, 165367290: 165367290
37 SCN2A NM_021007.2(SCN2A): c.4257C> T (p.Ala1419=) single nucleotide variant Conflicting interpretations of pathogenicity rs141153302 GRCh37 Chromosome 2, 166234109: 166234109
38 SCN2A NM_021007.2(SCN2A): c.4257C> T (p.Ala1419=) single nucleotide variant Conflicting interpretations of pathogenicity rs141153302 GRCh38 Chromosome 2, 165377599: 165377599
39 SCN2A NM_021007.2(SCN2A): c.4287T> C (p.Tyr1429=) single nucleotide variant Conflicting interpretations of pathogenicity rs150209984 GRCh37 Chromosome 2, 166234139: 166234139
40 SCN2A NM_021007.2(SCN2A): c.4287T> C (p.Tyr1429=) single nucleotide variant Conflicting interpretations of pathogenicity rs150209984 GRCh38 Chromosome 2, 165377629: 165377629
41 SCN2A NM_021007.2(SCN2A): c.5229A> G (p.Lys1743=) single nucleotide variant Benign/Likely benign rs2227898 GRCh37 Chromosome 2, 166245545: 166245545
42 SCN2A NM_021007.2(SCN2A): c.5229A> G (p.Lys1743=) single nucleotide variant Benign/Likely benign rs2227898 GRCh38 Chromosome 2, 165389035: 165389035
43 SCN2A NM_021007.2(SCN2A): c.5326C> T (p.Leu1776=) single nucleotide variant Benign rs138123155 GRCh37 Chromosome 2, 166245642: 166245642
44 SCN2A NM_021007.2(SCN2A): c.5326C> T (p.Leu1776=) single nucleotide variant Benign rs138123155 GRCh38 Chromosome 2, 165389132: 165389132
45 SCN2A NM_021007.2(SCN2A): c.5757C> T (p.Tyr1919=) single nucleotide variant Benign rs140417984 GRCh37 Chromosome 2, 166246073: 166246073
46 SCN2A NM_021007.2(SCN2A): c.5757C> T (p.Tyr1919=) single nucleotide variant Benign rs140417984 GRCh38 Chromosome 2, 165389563: 165389563
47 SCN2A NM_021007.2(SCN2A): c.24G> A (p.Pro8=) single nucleotide variant Conflicting interpretations of pathogenicity rs149534277 GRCh37 Chromosome 2, 166152357: 166152357
48 SCN2A NM_021007.2(SCN2A): c.24G> A (p.Pro8=) single nucleotide variant Conflicting interpretations of pathogenicity rs149534277 GRCh38 Chromosome 2, 165295847: 165295847
49 SCN2A NM_021007.2(SCN2A): c.897A> G (p.Ser299=) single nucleotide variant Conflicting interpretations of pathogenicity rs143765389 GRCh37 Chromosome 2, 166167032: 166167032
50 SCN2A NM_021007.2(SCN2A): c.897A> G (p.Ser299=) single nucleotide variant Conflicting interpretations of pathogenicity rs143765389 GRCh38 Chromosome 2, 165310522: 165310522

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

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