EIEE26
MCID: EPL130
MIFTS: 24

Epileptic Encephalopathy, Early Infantile, 26 (EIEE26)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 26

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 26:

Name: Epileptic Encephalopathy, Early Infantile, 26 58 76 30 6 74
Eiee26 58 54 76
Early Infantile Epileptic Encephalopathy 26 12 54
Encephalopathy, Epileptic, Early Infantile, Type 26 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
seizures are refractory to treatment
all reported cases have de novo mutations (last curated october 2014)


HPO:

33
epileptic encephalopathy, early infantile, 26:
Onset and clinical course infantile onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080461
OMIM 58 616056
MeSH 45 D013036
UMLS 74 C4015119

Summaries for Epileptic Encephalopathy, Early Infantile, 26

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 26: 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. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 26, is also known as eiee26. An important gene associated with Epileptic Encephalopathy, Early Infantile, 26 is KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1). Affiliated tissues include liver and eye, and related phenotypes are seizures and global developmental delay

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the KCNB1 gene on chromosome 20q13.

Description from OMIM: 616056

Related Diseases for Epileptic Encephalopathy, Early Infantile, 26

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, 26

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 26:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 global developmental delay 33 HP:0001263
3 absent speech 33 HP:0001344
4 epileptic encephalopathy 33 HP:0200134
5 hypsarrhythmia 33 HP:0002521
6 generalized hypotonia 33 HP:0001290

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
epileptic encephalopathy
hypsarrhythmia
hypotonia
delayed psychomotor development
poor or absent speech
more

Clinical features from OMIM:

616056

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 26

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 26

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 26

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 26:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 26 30 KCNB1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 26

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 26:

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 26

Articles related to Epileptic Encephalopathy, Early Infantile, 26:

# Title Authors Year
1
De novo KCNB1 mutations in epileptic encephalopathy. ( 25164438 )
2014
2
Clinical whole exome sequencing in child neurology practice. ( 25131622 )
2014

Variations for Epileptic Encephalopathy, Early Infantile, 26

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 26:

76
# Symbol AA change Variation ID SNP ID
1 KCNB1 p.Ser347Arg VAR_071991 rs587777848
2 KCNB1 p.Thr374Ile VAR_071992 rs587777849
3 KCNB1 p.Gly379Arg VAR_071993 rs587777850
4 KCNB1 p.Arg306Cys VAR_075573
5 KCNB1 p.Val378Ala VAR_075574
6 KCNB1 p.Gly401Arg VAR_075575

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 26:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNB1 NM_004975.3(KCNB1): c.1041C> A (p.Ser347Arg) single nucleotide variant Pathogenic rs587777848 GRCh38 Chromosome 20, 49374519: 49374519
2 KCNB1 NM_004975.3(KCNB1): c.1041C> A (p.Ser347Arg) single nucleotide variant Pathogenic rs587777848 GRCh37 Chromosome 20, 47991056: 47991056
3 KCNB1 NM_004975.2(KCNB1): c.1121C> T (p.Thr374Ile) single nucleotide variant Pathogenic rs587777849 GRCh37 Chromosome 20, 47990976: 47990976
4 KCNB1 NM_004975.2(KCNB1): c.1121C> T (p.Thr374Ile) single nucleotide variant Pathogenic rs587777849 GRCh38 Chromosome 20, 49374439: 49374439
5 KCNB1 NM_004975.3(KCNB1): c.1135G> A (p.Gly379Arg) single nucleotide variant Pathogenic rs587777850 GRCh38 Chromosome 20, 49374425: 49374425
6 KCNB1 NM_004975.3(KCNB1): c.1135G> A (p.Gly379Arg) single nucleotide variant Pathogenic rs587777850 GRCh37 Chromosome 20, 47990962: 47990962
7 KCNB1 NM_004975.2(KCNB1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039396 GRCh37 Chromosome 20, 47991163: 47991163
8 KCNB1 NM_004975.2(KCNB1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039396 GRCh38 Chromosome 20, 49374626: 49374626
9 KCNB1 NM_004975.3(KCNB1): c.908G> A (p.Arg303Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518621 GRCh37 Chromosome 20, 47991189: 47991189
10 KCNB1 NM_004975.3(KCNB1): c.908G> A (p.Arg303Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518621 GRCh38 Chromosome 20, 49374652: 49374652
11 KCNB1 NM_004975.3(KCNB1): c.1367G> A (p.Arg456Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs761082551 GRCh37 Chromosome 20, 47990730: 47990730
12 KCNB1 NM_004975.3(KCNB1): c.1367G> A (p.Arg456Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs761082551 GRCh38 Chromosome 20, 49374193: 49374193
13 KCNB1 NM_004975.3(KCNB1): c.2570G> A (p.Ser857Asn) single nucleotide variant Benign rs34280195 GRCh37 Chromosome 20, 47989527: 47989527
14 KCNB1 NM_004975.3(KCNB1): c.2570G> A (p.Ser857Asn) single nucleotide variant Benign rs34280195 GRCh38 Chromosome 20, 49372990: 49372990
15 KCNB1 NM_004975.3(KCNB1): c.2334C> T (p.Leu778=) single nucleotide variant Benign rs142111310 GRCh37 Chromosome 20, 47989763: 47989763
16 KCNB1 NM_004975.3(KCNB1): c.2334C> T (p.Leu778=) single nucleotide variant Benign rs142111310 GRCh38 Chromosome 20, 49373226: 49373226
17 KCNB1 NM_004975.3(KCNB1): c.1847C> G (p.Thr616Ser) single nucleotide variant Benign rs2229006 GRCh37 Chromosome 20, 47990250: 47990250
18 KCNB1 NM_004975.3(KCNB1): c.1847C> G (p.Thr616Ser) single nucleotide variant Benign rs2229006 GRCh38 Chromosome 20, 49373713: 49373713
19 KCNB1 NM_004975.3(KCNB1): c.1576G> A (p.Val526Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140932636 GRCh38 Chromosome 20, 49373984: 49373984
20 KCNB1 NM_004975.3(KCNB1): c.1576G> A (p.Val526Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140932636 GRCh37 Chromosome 20, 47990521: 47990521
21 KCNB1 NM_004975.3(KCNB1): c.1296G> A (p.Arg432=) single nucleotide variant Benign rs142605642 GRCh37 Chromosome 20, 47990801: 47990801
22 KCNB1 NM_004975.3(KCNB1): c.1296G> A (p.Arg432=) single nucleotide variant Benign rs142605642 GRCh38 Chromosome 20, 49374264: 49374264
23 KCNB1 NM_004975.3(KCNB1): c.198C> T (p.His66=) single nucleotide variant Benign rs520282 GRCh37 Chromosome 20, 48098820: 48098820
24 KCNB1 NM_004975.3(KCNB1): c.198C> T (p.His66=) single nucleotide variant Benign rs520282 GRCh38 Chromosome 20, 49482283: 49482283
25 KCNB1 NM_004975.3(KCNB1): c.2473C> T (p.Pro825Ser) single nucleotide variant Benign rs34467662 GRCh38 Chromosome 20, 49373087: 49373087
26 KCNB1 NM_004975.3(KCNB1): c.2473C> T (p.Pro825Ser) single nucleotide variant Benign rs34467662 GRCh37 Chromosome 20, 47989624: 47989624
27 KCNB1 NM_004975.3(KCNB1): c.2136G> A (p.Thr712=) single nucleotide variant Likely benign rs139458439 GRCh37 Chromosome 20, 47989961: 47989961
28 KCNB1 NM_004975.3(KCNB1): c.2136G> A (p.Thr712=) single nucleotide variant Likely benign rs139458439 GRCh38 Chromosome 20, 49373424: 49373424
29 KCNB1 NM_004975.3(KCNB1): c.1837C> T (p.Pro613Ser) single nucleotide variant Benign rs112735799 GRCh38 Chromosome 20, 49373723: 49373723
30 KCNB1 NM_004975.3(KCNB1): c.1837C> T (p.Pro613Ser) single nucleotide variant Benign rs112735799 GRCh37 Chromosome 20, 47990260: 47990260
31 KCNB1 NM_004975.3(KCNB1): c.1305T> C (p.Ala435=) single nucleotide variant Likely benign rs201403239 GRCh37 Chromosome 20, 47990792: 47990792
32 KCNB1 NM_004975.3(KCNB1): c.1305T> C (p.Ala435=) single nucleotide variant Likely benign rs201403239 GRCh38 Chromosome 20, 49374255: 49374255
33 KCNB1 NM_004975.3(KCNB1): c.177G> A (p.Lys59=) single nucleotide variant Benign rs117017889 GRCh37 Chromosome 20, 48098841: 48098841
34 KCNB1 NM_004975.3(KCNB1): c.177G> A (p.Lys59=) single nucleotide variant Benign rs117017889 GRCh38 Chromosome 20, 49482304: 49482304
35 KCNB1 NM_004975.3(KCNB1): c.39C> T (p.Thr13=) single nucleotide variant Likely benign rs775536644 GRCh37 Chromosome 20, 48098979: 48098979
36 KCNB1 NM_004975.3(KCNB1): c.39C> T (p.Thr13=) single nucleotide variant Likely benign rs775536644 GRCh38 Chromosome 20, 49482442: 49482442
37 KCNB1 NM_004975.3(KCNB1): c.2115C> T (p.Val705=) single nucleotide variant Likely benign rs199910304 GRCh37 Chromosome 20, 47989982: 47989982
38 KCNB1 NM_004975.3(KCNB1): c.2115C> T (p.Val705=) single nucleotide variant Likely benign rs199910304 GRCh38 Chromosome 20, 49373445: 49373445
39 KCNB1 NM_004975.3(KCNB1): c.2106G> A (p.Ala702=) single nucleotide variant Benign rs149678923 GRCh37 Chromosome 20, 47989991: 47989991
40 KCNB1 NM_004975.3(KCNB1): c.2106G> A (p.Ala702=) single nucleotide variant Benign rs149678923 GRCh38 Chromosome 20, 49373454: 49373454
41 KCNB1 NM_004975.3(KCNB1): c.1997C> T (p.Pro666Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201212125 GRCh37 Chromosome 20, 47990100: 47990100
42 KCNB1 NM_004975.3(KCNB1): c.1997C> T (p.Pro666Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201212125 GRCh38 Chromosome 20, 49373563: 49373563
43 KCNB1 NM_004975.3(KCNB1): c.1389T> A (p.Ile463=) single nucleotide variant Benign rs115929614 GRCh37 Chromosome 20, 47990708: 47990708
44 KCNB1 NM_004975.3(KCNB1): c.1389T> A (p.Ile463=) single nucleotide variant Benign rs115929614 GRCh38 Chromosome 20, 49374171: 49374171
45 KCNB1 NM_004975.3(KCNB1): c.1182G> A (p.Gly394=) single nucleotide variant Benign rs77238446 GRCh37 Chromosome 20, 47990915: 47990915
46 KCNB1 NM_004975.3(KCNB1): c.1182G> A (p.Gly394=) single nucleotide variant Benign rs77238446 GRCh38 Chromosome 20, 49374378: 49374378
47 KCNB1 NM_004975.3(KCNB1): c.1153C> A (p.Pro385Thr) single nucleotide variant Likely pathogenic rs1060499592 GRCh37 Chromosome 20, 47990944: 47990944
48 KCNB1 NM_004975.3(KCNB1): c.1153C> A (p.Pro385Thr) single nucleotide variant Likely pathogenic rs1060499592 GRCh38 Chromosome 20, 49374407: 49374407
49 KCNB1 NM_004975.3(KCNB1): c.605C> T (p.Ser202Phe) single nucleotide variant Uncertain significance rs1060499607 GRCh37 Chromosome 20, 47991492: 47991492
50 KCNB1 NM_004975.3(KCNB1): c.605C> T (p.Ser202Phe) single nucleotide variant Uncertain significance rs1060499607 GRCh38 Chromosome 20, 49374955: 49374955

Expression for Epileptic Encephalopathy, Early Infantile, 26

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 26.

Pathways for Epileptic Encephalopathy, Early Infantile, 26

GO Terms for Epileptic Encephalopathy, Early Infantile, 26

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