EIEE32
MCID: EPL146
MIFTS: 22

Epileptic Encephalopathy, Early Infantile, 32 (EIEE32)

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, 32

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 32:

Name: Epileptic Encephalopathy, Early Infantile, 32 57 75 29 6
Eiee32 57 75
Encephalopathy, Epileptic, Early Infantile, Type 32 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
normal development before onset of seizures
seizures may remit later in childhood


HPO:

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


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 32

UniProtKB/Swiss-Prot : 75 Epileptic encephalopathy, early infantile, 32: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 32, is also known as eiee32. An important gene associated with Epileptic Encephalopathy, Early Infantile, 32 is KCNA2 (Potassium Voltage-Gated Channel Subfamily A Member 2). Affiliated tissues include liver and eye, and related phenotypes are intellectual disability and seizures

Description from OMIM: 616366

Related Diseases for Epileptic Encephalopathy, Early Infantile, 32

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, 32

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
ataxia
tremor
myoclonus
epileptic encephalopathy
seizures, refractory
more

Clinical features from OMIM:

616366

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 32:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 ataxia 32 HP:0001251
4 tremor 32 HP:0001337
5 myoclonus 32 HP:0001336
6 absent speech 32 HP:0001344
7 epileptic encephalopathy 32 HP:0200134

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 32

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 32

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 32

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 32:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 32 29 KCNA2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 32

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 32:

41
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 32

Variations for Epileptic Encephalopathy, Early Infantile, 32

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 32:

75
# Symbol AA change Variation ID SNP ID
1 KCNA2 p.Ile263Thr VAR_073704 rs786205231
2 KCNA2 p.Arg297Gln VAR_073705 rs786205232
3 KCNA2 p.Leu298Phe VAR_073706 rs876657390
4 KCNA2 p.Pro405Leu VAR_073707 rs876657389

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 32:

6 (show top 50) (show all 78)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNA2 NM_004974.3(KCNA2): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs876657389 GRCh38 Chromosome 1, 110603569: 110603569
2 KCNA2 NM_004974.3(KCNA2): c.1214C> T (p.Pro405Leu) single nucleotide variant Pathogenic rs876657389 GRCh37 Chromosome 1, 111146191: 111146191
3 KCNA2 NM_004974.3(KCNA2): c.788T> C (p.Ile263Thr) single nucleotide variant Pathogenic rs786205231 GRCh37 Chromosome 1, 111146617: 111146617
4 KCNA2 NM_004974.3(KCNA2): c.788T> C (p.Ile263Thr) single nucleotide variant Pathogenic rs786205231 GRCh38 Chromosome 1, 110603995: 110603995
5 KCNA2 NM_004974.3(KCNA2): c.894G> T (p.Leu298Phe) single nucleotide variant Pathogenic rs876657390 GRCh37 Chromosome 1, 111146511: 111146511
6 KCNA2 NM_004974.3(KCNA2): c.894G> T (p.Leu298Phe) single nucleotide variant Pathogenic rs876657390 GRCh38 Chromosome 1, 110603889: 110603889
7 KCNA2 NM_004974.3(KCNA2): c.890G> A (p.Arg297Gln) single nucleotide variant Pathogenic rs786205232 GRCh37 Chromosome 1, 111146515: 111146515
8 KCNA2 NM_004974.3(KCNA2): c.890G> A (p.Arg297Gln) single nucleotide variant Pathogenic rs786205232 GRCh38 Chromosome 1, 110603893: 110603893
9 KCNA2 NM_004974.3(KCNA2): c.881G> A (p.Arg294His) single nucleotide variant Conflicting interpretations of pathogenicity rs886041761 GRCh37 Chromosome 1, 111146524: 111146524
10 KCNA2 NM_004974.3(KCNA2): c.881G> A (p.Arg294His) single nucleotide variant Conflicting interpretations of pathogenicity rs886041761 GRCh38 Chromosome 1, 110603902: 110603902
11 KCNA2 NM_004974.3(KCNA2): c.372G> A (p.Glu124=) single nucleotide variant Conflicting interpretations of pathogenicity rs200499541 GRCh37 Chromosome 1, 111147033: 111147033
12 KCNA2 NM_004974.3(KCNA2): c.372G> A (p.Glu124=) single nucleotide variant Conflicting interpretations of pathogenicity rs200499541 GRCh38 Chromosome 1, 110604411: 110604411
13 KCNA2 NM_004974.3(KCNA2): c.1392T> G (p.Gly464=) single nucleotide variant Benign rs115456625 GRCh38 Chromosome 1, 110603391: 110603391
14 KCNA2 NM_004974.3(KCNA2): c.1392T> G (p.Gly464=) single nucleotide variant Benign rs115456625 GRCh37 Chromosome 1, 111146013: 111146013
15 KCNA2 NM_004974.3(KCNA2): c.276C> T (p.Tyr92=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 111147129: 111147129
16 KCNA2 NM_004974.3(KCNA2): c.276C> T (p.Tyr92=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 110604507: 110604507
17 KCNA2 NM_004974.3(KCNA2): c.193C> T (p.Arg65Ter) single nucleotide variant Uncertain significance rs763353895 GRCh38 Chromosome 1, 110604590: 110604590
18 KCNA2 NM_004974.3(KCNA2): c.193C> T (p.Arg65Ter) single nucleotide variant Uncertain significance rs763353895 GRCh37 Chromosome 1, 111147212: 111147212
19 KCNA2 NM_004974.3(KCNA2): c.895G> C (p.Val299Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110603888: 110603888
20 KCNA2 NM_004974.3(KCNA2): c.895G> C (p.Val299Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111146510: 111146510
21 KCNA2 NM_004974.3(KCNA2): c.156C> T (p.Ala52=) single nucleotide variant Likely benign GRCh37 Chromosome 1, 111147249: 111147249
22 KCNA2 NM_004974.3(KCNA2): c.156C> T (p.Ala52=) single nucleotide variant Likely benign GRCh38 Chromosome 1, 110604627: 110604627
23 KCNA2 NM_004974.3(KCNA2): c.68A> G (p.Tyr23Cys) single nucleotide variant Likely pathogenic rs753829876 GRCh37 Chromosome 1, 111147337: 111147337
24 KCNA2 NM_004974.3(KCNA2): c.68A> G (p.Tyr23Cys) single nucleotide variant Likely pathogenic rs753829876 GRCh38 Chromosome 1, 110604715: 110604715
25 KCNA2 NM_004974.3(KCNA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110603527: 110603527
26 KCNA2 NM_004974.3(KCNA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111146149: 111146149
27 KCNA2 NM_004974.3(KCNA2): c.318A> G (p.Leu106=) single nucleotide variant Likely benign rs763135225 GRCh37 Chromosome 1, 111147087: 111147087
28 KCNA2 NM_004974.3(KCNA2): c.318A> G (p.Leu106=) single nucleotide variant Likely benign rs763135225 GRCh38 Chromosome 1, 110604465: 110604465
29 KCNA2 NM_004974.3(KCNA2): c.1185G> A (p.Ala395=) single nucleotide variant Benign rs78349687 GRCh38 Chromosome 1, 110603598: 110603598
30 KCNA2 NM_004974.3(KCNA2): c.1185G> A (p.Ala395=) single nucleotide variant Benign rs78349687 GRCh37 Chromosome 1, 111146220: 111146220
31 KCNA2 NM_004974.3(KCNA2): c.1107C> T (p.Val369=) single nucleotide variant Likely benign rs141466713 GRCh37 Chromosome 1, 111146298: 111146298
32 KCNA2 NM_004974.3(KCNA2): c.1107C> T (p.Val369=) single nucleotide variant Likely benign rs141466713 GRCh38 Chromosome 1, 110603676: 110603676
33 KCNA2 NM_004974.3(KCNA2): c.213C> T (p.Pro71=) single nucleotide variant Benign rs116111724 GRCh37 Chromosome 1, 111147192: 111147192
34 KCNA2 NM_004974.3(KCNA2): c.213C> T (p.Pro71=) single nucleotide variant Benign rs116111724 GRCh38 Chromosome 1, 110604570: 110604570
35 KCNA2 NM_004974.3(KCNA2): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 111146446: 111146446
36 KCNA2 NM_004974.3(KCNA2): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 110603824: 110603824
37 KCNA2 NM_004974.3(KCNA2): c.1031dup (p.Ser344Argfs) duplication Uncertain significance GRCh38 Chromosome 1, 110603752: 110603752
38 KCNA2 NM_004974.3(KCNA2): c.1031dup (p.Ser344Argfs) duplication Uncertain significance GRCh37 Chromosome 1, 111146374: 111146374
39 KCNA2 NM_004974.3(KCNA2): c.807C> T (p.Thr269=) single nucleotide variant Benign rs146036196 GRCh38 Chromosome 1, 110603976: 110603976
40 KCNA2 NM_004974.3(KCNA2): c.807C> T (p.Thr269=) single nucleotide variant Benign rs146036196 GRCh37 Chromosome 1, 111146598: 111146598
41 KCNA2 NM_004974.3(KCNA2): c.547G> A (p.Glu183Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110604236: 110604236
42 KCNA2 NM_004974.3(KCNA2): c.547G> A (p.Glu183Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111146858: 111146858
43 KCNA2 NM_004974.3(KCNA2): c.1304G> C (p.Cys435Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110603479: 110603479
44 KCNA2 NM_004974.3(KCNA2): c.1304G> C (p.Cys435Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111146101: 111146101
45 KCNA2 NM_004974.3(KCNA2): c.244C> T (p.Arg82Cys) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110604539: 110604539
46 KCNA2 NM_004974.3(KCNA2): c.244C> T (p.Arg82Cys) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111147161: 111147161
47 KCNA2 NM_004974.3(KCNA2): c.1299A> T (p.Thr433=) single nucleotide variant Benign rs80034565 GRCh38 Chromosome 1, 110603484: 110603484
48 KCNA2 NM_004974.3(KCNA2): c.1299A> T (p.Thr433=) single nucleotide variant Benign rs80034565 GRCh37 Chromosome 1, 111146106: 111146106
49 KCNA2 NM_004974.3(KCNA2): c.1216G> T (p.Val406Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 110603567: 110603567
50 KCNA2 NM_004974.3(KCNA2): c.1216G> T (p.Val406Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 111146189: 111146189

Expression for Epileptic Encephalopathy, Early Infantile, 32

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 32.

Pathways for Epileptic Encephalopathy, Early Infantile, 32

GO Terms for Epileptic Encephalopathy, Early Infantile, 32

Sources for Epileptic Encephalopathy, Early Infantile, 32

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