MCID: EPL130
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 26

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 26

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

Name: Epileptic Encephalopathy, Early Infantile, 26 57 75 29 6 73
Eiee26 57 53 75
Encephalopathy, Epileptic, Early Infantile, Type 26 40
Early Infantile Epileptic Encephalopathy 26 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 26:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 26

UniProtKB/Swiss-Prot : 75 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). Related phenotypes are seizures and global developmental delay

Description from OMIM: 616056

Related Diseases for Epileptic Encephalopathy, Early Infantile, 26

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, 26

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
epileptic encephalopathy
delayed psychomotor development
poor or absent speech
seizures, multiple types
hypotonia
more

Clinical features from OMIM:

616056

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

32
# Description HPO Frequency HPO Source Accession
1 seizures 32 HP:0001250
2 global developmental delay 32 HP:0001263
3 generalized hypotonia 32 HP:0001290
4 hypsarrhythmia 32 HP:0002521
5 epileptic encephalopathy 32 HP:0200134

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 29 KCNB1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 26

Publications for Epileptic Encephalopathy, Early Infantile, 26

Variations for Epileptic Encephalopathy, Early Infantile, 26

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

75
# 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 96)
# 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_004975.3(KCNB1): c.1121C> T (p.Thr374Ile) single nucleotide variant Pathogenic rs587777849 GRCh37 Chromosome 20, 47990976: 47990976
4 KCNB1 NM_004975.3(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_004975.3(KCNB1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039396 GRCh37 Chromosome 20, 47991163: 47991163
8 KCNB1 NM_004975.3(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.1367G> A (p.Arg456Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs761082551 GRCh37 Chromosome 20, 47990730: 47990730
10 KCNB1 NM_004975.3(KCNB1): c.1367G> A (p.Arg456Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs761082551 GRCh38 Chromosome 20, 49374193: 49374193
11 KCNB1 NM_004975.3(KCNB1): c.2570G> A (p.Ser857Asn) single nucleotide variant Benign rs34280195 GRCh37 Chromosome 20, 47989527: 47989527
12 KCNB1 NM_004975.3(KCNB1): c.2570G> A (p.Ser857Asn) single nucleotide variant Benign rs34280195 GRCh38 Chromosome 20, 49372990: 49372990
13 KCNB1 NM_004975.3(KCNB1): c.2334C> T (p.Leu778=) single nucleotide variant Benign rs142111310 GRCh37 Chromosome 20, 47989763: 47989763
14 KCNB1 NM_004975.3(KCNB1): c.2334C> T (p.Leu778=) single nucleotide variant Benign rs142111310 GRCh38 Chromosome 20, 49373226: 49373226
15 KCNB1 NM_004975.3(KCNB1): c.1847C> G (p.Thr616Ser) single nucleotide variant Benign rs2229006 GRCh37 Chromosome 20, 47990250: 47990250
16 KCNB1 NM_004975.3(KCNB1): c.1847C> G (p.Thr616Ser) single nucleotide variant Benign rs2229006 GRCh38 Chromosome 20, 49373713: 49373713
17 KCNB1 NM_004975.3(KCNB1): c.1576G> A (p.Val526Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140932636 GRCh37 Chromosome 20, 47990521: 47990521
18 KCNB1 NM_004975.3(KCNB1): c.1576G> A (p.Val526Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140932636 GRCh38 Chromosome 20, 49373984: 49373984
19 KCNB1 NM_004975.3(KCNB1): c.1296G> A (p.Arg432=) single nucleotide variant Benign rs142605642 GRCh37 Chromosome 20, 47990801: 47990801
20 KCNB1 NM_004975.3(KCNB1): c.1296G> A (p.Arg432=) single nucleotide variant Benign rs142605642 GRCh38 Chromosome 20, 49374264: 49374264
21 KCNB1 NM_004975.3(KCNB1): c.198C> T (p.His66=) single nucleotide variant Benign rs520282 GRCh37 Chromosome 20, 48098820: 48098820
22 KCNB1 NM_004975.3(KCNB1): c.198C> T (p.His66=) single nucleotide variant Benign rs520282 GRCh38 Chromosome 20, 49482283: 49482283
23 KCNB1 NM_004975.3(KCNB1): c.2473C> T (p.Pro825Ser) single nucleotide variant Benign rs34467662 GRCh38 Chromosome 20, 49373087: 49373087
24 KCNB1 NM_004975.3(KCNB1): c.2473C> T (p.Pro825Ser) single nucleotide variant Benign rs34467662 GRCh37 Chromosome 20, 47989624: 47989624
25 KCNB1 NM_004975.3(KCNB1): c.2136G> A (p.Thr712=) single nucleotide variant Likely benign rs139458439 GRCh38 Chromosome 20, 49373424: 49373424
26 KCNB1 NM_004975.3(KCNB1): c.2136G> A (p.Thr712=) single nucleotide variant Likely benign rs139458439 GRCh37 Chromosome 20, 47989961: 47989961
27 KCNB1 NM_004975.3(KCNB1): c.1837C> T (p.Pro613Ser) single nucleotide variant Benign rs112735799 GRCh38 Chromosome 20, 49373723: 49373723
28 KCNB1 NM_004975.3(KCNB1): c.1837C> T (p.Pro613Ser) single nucleotide variant Benign rs112735799 GRCh37 Chromosome 20, 47990260: 47990260
29 KCNB1 NM_004975.3(KCNB1): c.1305T> C (p.Ala435=) single nucleotide variant Likely benign rs201403239 GRCh37 Chromosome 20, 47990792: 47990792
30 KCNB1 NM_004975.3(KCNB1): c.1305T> C (p.Ala435=) single nucleotide variant Likely benign rs201403239 GRCh38 Chromosome 20, 49374255: 49374255
31 KCNB1 NM_004975.3(KCNB1): c.177G> A (p.Lys59=) single nucleotide variant Benign rs117017889 GRCh37 Chromosome 20, 48098841: 48098841
32 KCNB1 NM_004975.3(KCNB1): c.177G> A (p.Lys59=) single nucleotide variant Benign rs117017889 GRCh38 Chromosome 20, 49482304: 49482304
33 KCNB1 NM_004975.3(KCNB1): c.39C> T (p.Thr13=) single nucleotide variant Likely benign rs775536644 GRCh37 Chromosome 20, 48098979: 48098979
34 KCNB1 NM_004975.3(KCNB1): c.39C> T (p.Thr13=) single nucleotide variant Likely benign rs775536644 GRCh38 Chromosome 20, 49482442: 49482442
35 KCNB1 NM_004975.3(KCNB1): c.2115C> T (p.Val705=) single nucleotide variant Likely benign rs199910304 GRCh37 Chromosome 20, 47989982: 47989982
36 KCNB1 NM_004975.3(KCNB1): c.2115C> T (p.Val705=) single nucleotide variant Likely benign rs199910304 GRCh38 Chromosome 20, 49373445: 49373445
37 KCNB1 NM_004975.3(KCNB1): c.2106G> A (p.Ala702=) single nucleotide variant Benign rs149678923 GRCh37 Chromosome 20, 47989991: 47989991
38 KCNB1 NM_004975.3(KCNB1): c.2106G> A (p.Ala702=) single nucleotide variant Benign rs149678923 GRCh38 Chromosome 20, 49373454: 49373454
39 KCNB1 NM_004975.3(KCNB1): c.1997C> T (p.Pro666Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201212125 GRCh37 Chromosome 20, 47990100: 47990100
40 KCNB1 NM_004975.3(KCNB1): c.1997C> T (p.Pro666Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201212125 GRCh38 Chromosome 20, 49373563: 49373563
41 KCNB1 NM_004975.3(KCNB1): c.1389T> A (p.Ile463=) single nucleotide variant Benign rs115929614 GRCh37 Chromosome 20, 47990708: 47990708
42 KCNB1 NM_004975.3(KCNB1): c.1389T> A (p.Ile463=) single nucleotide variant Benign rs115929614 GRCh38 Chromosome 20, 49374171: 49374171
43 KCNB1 NM_004975.3(KCNB1): c.1182G> A (p.Gly394=) single nucleotide variant Benign rs77238446 GRCh38 Chromosome 20, 49374378: 49374378
44 KCNB1 NM_004975.3(KCNB1): c.1182G> A (p.Gly394=) single nucleotide variant Benign rs77238446 GRCh37 Chromosome 20, 47990915: 47990915
45 KCNB1 NM_004975.3(KCNB1): c.1153C> A (p.Pro385Thr) single nucleotide variant Likely pathogenic rs1060499592 GRCh37 Chromosome 20, 47990944: 47990944
46 KCNB1 NM_004975.3(KCNB1): c.1153C> A (p.Pro385Thr) single nucleotide variant Likely pathogenic rs1060499592 GRCh38 Chromosome 20, 49374407: 49374407
47 KCNB1 NM_004975.3(KCNB1): c.605C> T (p.Ser202Phe) single nucleotide variant Uncertain significance rs1060499607 GRCh37 Chromosome 20, 47991492: 47991492
48 KCNB1 NM_004975.3(KCNB1): c.605C> T (p.Ser202Phe) single nucleotide variant Uncertain significance rs1060499607 GRCh38 Chromosome 20, 49374955: 49374955
49 KCNB1 NM_004975.3(KCNB1): c.2324C> G (p.Pro775Arg) single nucleotide variant Likely benign rs530927636 GRCh37 Chromosome 20, 47989773: 47989773
50 KCNB1 NM_004975.3(KCNB1): c.2324C> G (p.Pro775Arg) single nucleotide variant Likely benign rs530927636 GRCh38 Chromosome 20, 49373236: 49373236

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

Sources for Epileptic Encephalopathy, Early Infantile, 26

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