EIEE32
MCID: EPL146
MIFTS: 23

Epileptic Encephalopathy, Early Infantile, 32 (EIEE32)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic 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 58 76 30 6
Eiee32 58 76
Encephalopathy, Epileptic, Early Infantile, Type 32 41
Early Infantile Epileptic Encephalopathy 32 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 : 76 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

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has material basis in heterozygous mutation in the KCNA2 gene on chromosome 1p13.

Description from OMIM: 616366

Related Diseases for Epileptic Encephalopathy, Early Infantile, 32

Diseases in the Early 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, 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 Epileptic Encephalopathy, Early Infantile, 68
Epileptic Encephalopathy, Early Infantile, 69 Epileptic Encephalopathy, Early Infantile, 70
Epileptic Encephalopathy, Early Infantile, 71 Epileptic Encephalopathy, Early Infantile, 72
Epileptic Encephalopathy, Early Infantile, 73 Epileptic Encephalopathy, Early Infantile, 74

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 32

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

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 ataxia 33 HP:0001251
4 tremor 33 HP:0001337
5 myoclonus 33 HP:0001336
6 absent speech 33 HP:0001344
7 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
ataxia
tremor
myoclonus
epileptic encephalopathy
seizures, refractory
more

Clinical features from OMIM:

616366

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 30 KCNA2

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 32

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

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 32

Articles related to Epileptic Encephalopathy, Early Infantile, 32:

# Title Authors Year
1
Ataxia and myoclonic epilepsy due to a heterozygous new mutation in KCNA2: proposal for a new channelopathy. ( 25477152 )
2015
2
De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. ( 25751627 )
2015

Variations for Epileptic Encephalopathy, Early Infantile, 32

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

76
# 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 80)
# 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.1195G> A (p.Val399Met) single nucleotide variant Likely pathogenic rs1064794738 GRCh38 Chromosome 1, 110603588: 110603588
12 KCNA2 NM_004974.3(KCNA2): c.1195G> A (p.Val399Met) single nucleotide variant Likely pathogenic rs1064794738 GRCh37 Chromosome 1, 111146210: 111146210
13 KCNA2 NM_004974.3(KCNA2): c.372G> A (p.Glu124=) single nucleotide variant Conflicting interpretations of pathogenicity rs200499541 GRCh37 Chromosome 1, 111147033: 111147033
14 KCNA2 NM_004974.3(KCNA2): c.372G> A (p.Glu124=) single nucleotide variant Conflicting interpretations of pathogenicity rs200499541 GRCh38 Chromosome 1, 110604411: 110604411
15 KCNA2 NM_004974.3(KCNA2): c.1392T> G (p.Gly464=) single nucleotide variant Benign rs115456625 GRCh38 Chromosome 1, 110603391: 110603391
16 KCNA2 NM_004974.3(KCNA2): c.1392T> G (p.Gly464=) single nucleotide variant Benign rs115456625 GRCh37 Chromosome 1, 111146013: 111146013
17 KCNA2 NM_004974.3(KCNA2): c.276C> T (p.Tyr92=) single nucleotide variant Likely benign rs1553181436 GRCh37 Chromosome 1, 111147129: 111147129
18 KCNA2 NM_004974.3(KCNA2): c.276C> T (p.Tyr92=) single nucleotide variant Likely benign rs1553181436 GRCh38 Chromosome 1, 110604507: 110604507
19 KCNA2 NM_004974.3(KCNA2): c.193C> T (p.Arg65Ter) single nucleotide variant Uncertain significance rs763353895 GRCh38 Chromosome 1, 110604590: 110604590
20 KCNA2 NM_004974.3(KCNA2): c.193C> T (p.Arg65Ter) single nucleotide variant Uncertain significance rs763353895 GRCh37 Chromosome 1, 111147212: 111147212
21 KCNA2 NM_004974.3(KCNA2): c.895G> C (p.Val299Leu) single nucleotide variant Uncertain significance rs1553181334 GRCh38 Chromosome 1, 110603888: 110603888
22 KCNA2 NM_004974.3(KCNA2): c.895G> C (p.Val299Leu) single nucleotide variant Uncertain significance rs1553181334 GRCh37 Chromosome 1, 111146510: 111146510
23 KCNA2 NM_004974.3(KCNA2): c.156C> T (p.Ala52=) single nucleotide variant Likely benign rs1444396267 GRCh38 Chromosome 1, 110604627: 110604627
24 KCNA2 NM_004974.3(KCNA2): c.156C> T (p.Ala52=) single nucleotide variant Likely benign rs1444396267 GRCh37 Chromosome 1, 111147249: 111147249
25 KCNA2 NM_004974.3(KCNA2): c.68A> G (p.Tyr23Cys) single nucleotide variant Likely pathogenic rs753829876 GRCh37 Chromosome 1, 111147337: 111147337
26 KCNA2 NM_004974.3(KCNA2): c.68A> G (p.Tyr23Cys) single nucleotide variant Likely pathogenic rs753829876 GRCh38 Chromosome 1, 110604715: 110604715
27 KCNA2 NM_004974.3(KCNA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Uncertain significance rs1296710118 GRCh38 Chromosome 1, 110603527: 110603527
28 KCNA2 NM_004974.3(KCNA2): c.1256G> A (p.Arg419Gln) single nucleotide variant Uncertain significance rs1296710118 GRCh37 Chromosome 1, 111146149: 111146149
29 KCNA2 NM_004974.3(KCNA2): c.318A> G (p.Leu106=) single nucleotide variant Likely benign rs763135225 GRCh37 Chromosome 1, 111147087: 111147087
30 KCNA2 NM_004974.3(KCNA2): c.318A> G (p.Leu106=) single nucleotide variant Likely benign rs763135225 GRCh38 Chromosome 1, 110604465: 110604465
31 KCNA2 NM_004974.3(KCNA2): c.1185G> A (p.Ala395=) single nucleotide variant Benign rs78349687 GRCh38 Chromosome 1, 110603598: 110603598
32 KCNA2 NM_004974.3(KCNA2): c.1185G> A (p.Ala395=) single nucleotide variant Benign rs78349687 GRCh37 Chromosome 1, 111146220: 111146220
33 KCNA2 NM_004974.3(KCNA2): c.1107C> T (p.Val369=) single nucleotide variant Likely benign rs141466713 GRCh37 Chromosome 1, 111146298: 111146298
34 KCNA2 NM_004974.3(KCNA2): c.1107C> T (p.Val369=) single nucleotide variant Likely benign rs141466713 GRCh38 Chromosome 1, 110603676: 110603676
35 KCNA2 NM_004974.3(KCNA2): c.213C> T (p.Pro71=) single nucleotide variant Benign/Likely benign rs116111724 GRCh37 Chromosome 1, 111147192: 111147192
36 KCNA2 NM_004974.3(KCNA2): c.213C> T (p.Pro71=) single nucleotide variant Benign/Likely benign rs116111724 GRCh38 Chromosome 1, 110604570: 110604570
37 KCNA2 NM_004974.3(KCNA2): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic rs1553181323 GRCh37 Chromosome 1, 111146446: 111146446
38 KCNA2 NM_004974.3(KCNA2): c.959C> T (p.Thr320Ile) single nucleotide variant Likely pathogenic rs1553181323 GRCh38 Chromosome 1, 110603824: 110603824
39 KCNA2 NM_004974.3(KCNA2): c.1031dup (p.Ser344Argfs) duplication Uncertain significance rs1553181298 GRCh38 Chromosome 1, 110603752: 110603752
40 KCNA2 NM_004974.3(KCNA2): c.1031dup (p.Ser344Argfs) duplication Uncertain significance rs1553181298 GRCh37 Chromosome 1, 111146374: 111146374
41 KCNA2 NM_004974.3(KCNA2): c.807C> T (p.Thr269=) single nucleotide variant Benign/Likely benign rs146036196 GRCh38 Chromosome 1, 110603976: 110603976
42 KCNA2 NM_004974.3(KCNA2): c.807C> T (p.Thr269=) single nucleotide variant Benign/Likely benign rs146036196 GRCh37 Chromosome 1, 111146598: 111146598
43 KCNA2 NM_004974.3(KCNA2): c.547G> A (p.Glu183Lys) single nucleotide variant Uncertain significance rs1553181398 GRCh38 Chromosome 1, 110604236: 110604236
44 KCNA2 NM_004974.3(KCNA2): c.547G> A (p.Glu183Lys) single nucleotide variant Uncertain significance rs1553181398 GRCh37 Chromosome 1, 111146858: 111146858
45 KCNA2 NM_004974.3(KCNA2): c.1304G> C (p.Cys435Ser) single nucleotide variant Uncertain significance rs1553181236 GRCh37 Chromosome 1, 111146101: 111146101
46 KCNA2 NM_004974.3(KCNA2): c.1304G> C (p.Cys435Ser) single nucleotide variant Uncertain significance rs1553181236 GRCh38 Chromosome 1, 110603479: 110603479
47 KCNA2 NM_004974.3(KCNA2): c.244C> T (p.Arg82Cys) single nucleotide variant Uncertain significance rs1433727837 GRCh38 Chromosome 1, 110604539: 110604539
48 KCNA2 NM_004974.3(KCNA2): c.244C> T (p.Arg82Cys) single nucleotide variant Uncertain significance rs1433727837 GRCh37 Chromosome 1, 111147161: 111147161
49 KCNA2 NM_004974.3(KCNA2): c.1299A> T (p.Thr433=) single nucleotide variant Benign/Likely benign rs80034565 GRCh37 Chromosome 1, 111146106: 111146106
50 KCNA2 NM_004974.3(KCNA2): c.1299A> T (p.Thr433=) single nucleotide variant Benign/Likely benign rs80034565 GRCh38 Chromosome 1, 110603484: 110603484

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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