EIEE26
MCID: EPL130
MIFTS: 36

Epileptic Encephalopathy, Early Infantile, 26 (EIEE26)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological 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 56 73 29 6 71
Early Infantile Epileptic Encephalopathy 26 12 52 15
Eiee26 56 52 73
Encephalopathy, Epileptic, Early Infantile, Type 26 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
epileptic encephalopathy, early infantile, 26:
Inheritance autosomal dominant inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0080461
OMIM 56 616056
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
UMLS 71 C4015119

Summaries for Epileptic Encephalopathy, Early Infantile, 26

UniProtKB/Swiss-Prot : 73 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, also known as early infantile epileptic encephalopathy 26, is related to episodic ataxia, type 1 and episodic ataxia. An important gene associated with Epileptic Encephalopathy, Early Infantile, 26 is KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1), and among its related pathways/superpathways are Phagosome and Potassium Channels. Related phenotypes are global developmental delay and absent speech

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

More information from OMIM: 616056 PS308350

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Epileptic Encephalopathy, Early Infantile, 84
Epileptic Encephalopathy, Early Infantile, 86 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 26 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 episodic ataxia, type 1 9.9 KCNB1 KCNA2
2 episodic ataxia 9.9 KCNB1 KCNA2
3 benign neonatal seizures 9.9 KCNB1 KCNA2
4 paroxysmal extreme pain disorder 9.9 KCNB1 KCNA2
5 undetermined early-onset epileptic encephalopathy 9.8 KCNB1 KCNA2
6 epileptic encephalopathy, early infantile, 6 9.8 KCNB1 KCNA2
7 long qt syndrome 1 9.7 KCNB1 KCNA2
8 visual epilepsy 9.7 KCNB1 KCNA2
9 alacrima, achalasia, and mental retardation syndrome 9.5 KCNB1 KCNA2

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 26:



Diseases related to Epileptic Encephalopathy, Early Infantile, 26

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 26

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

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 HP:0001263
2 absent speech 31 HP:0001344
3 generalized hypotonia 31 HP:0001290
4 hypsarrhythmia 31 HP:0002521
5 epileptic encephalopathy 31 HP:0200134
6 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
hypotonia
delayed psychomotor development
poor or absent speech
more

Clinical features from OMIM:

616056

MGI Mouse Phenotypes related to Epileptic Encephalopathy, Early Infantile, 26:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.35 CANX KCNA2 KCNB1 ST8SIA2 TFRC
2 nervous system MP:0003631 9.02 CANX KCNA2 KCNB1 ST8SIA2 TFRC

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

Articles related to Epileptic Encephalopathy, Early Infantile, 26:

# Title Authors PMID Year
1
De novo KCNB1 mutations in epileptic encephalopathy. 56 6
25164438 2014
2
Clinical whole exome sequencing in child neurology practice. 6
25131622 2014
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 26

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

6 (show top 50) (show all 129) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNB1 NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)SNV Pathogenic 449693 rs1555889130 20:47991181-47991181 20:49374644-49374644
2 KCNB1 NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg)SNV Pathogenic 475255 rs587777848 20:47991056-47991056 20:49374519-49374519
3 KCNB1 NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu)SNV Pathogenic 576946 rs1569017114 20:47990955-47990955 20:49374418-49374418
4 KCNB1 NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter)SNV Pathogenic 828102 20:47990569-47990569 20:49374032-49374032
5 KCNB1 NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter)SNV Pathogenic 916589 20:47990988-47990988 20:49374451-49374451
6 KCNB1 NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg)SNV Pathogenic 156533 rs587777848 20:47991056-47991056 20:49374519-49374519
7 KCNB1 NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile)SNV Pathogenic 156534 rs587777849 20:47990976-47990976 20:49374439-49374439
8 KCNB1 NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg)SNV Pathogenic 156535 rs587777850 20:47990962-47990962 20:49374425-49374425
9 KCNB1 NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)SNV Pathogenic/Likely pathogenic 265207 rs886039396 20:47991163-47991163 20:49374626-49374626
10 KCNB1 NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)SNV Pathogenic/Likely pathogenic 633637 rs781663444 20:47990350-47990350 20:49373813-49373813
11 KCNB1 NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)SNV Pathogenic/Likely pathogenic 542057 rs1555889162 20:47991468-47991468 20:49374931-49374931
12 KCNB1 NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)SNV Pathogenic/Likely pathogenic 420881 rs1064794764 20:47990800-47990800 20:49374263-49374263
13 KCNB1 NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)SNV Likely pathogenic 417907 rs1060499592 20:47990944-47990944 20:49374407-49374407
14 KCNB1 NM_004975.4(KCNB1):c.1088del (p.Ser363fs)deletion Likely pathogenic 542055 rs1555889103 20:47991009-47991009 20:49374472-49374472
15 KCNB1 NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)SNV Likely pathogenic 545438 rs959316981 20:47990914-47990914 20:49374377-49374377
16 KCNB1 NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)SNV Likely pathogenic 559895 rs1555889108 20:47991096-47991096 20:49374559-49374559
17 KCNB1 NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)SNV Likely pathogenic 659148 20:47990880-47990880 20:49374343-49374343
18 KCNB1 NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)SNV Likely pathogenic 373805 rs1057518621 20:47991189-47991189 20:49374652-49374652
19 KCNB1 NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu)SNV Likely pathogenic 859281 20:47990851-47990851 20:49374314-49374314
20 KCNB1 NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)SNV Likely pathogenic 800948 20:47990875-47990875 20:49374338-49374338
21 KCNB1 NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)SNV Likely pathogenic 803612 20:47991283-47991283 20:49374746-49374746
22 KCNB1 NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)SNV Likely pathogenic 803613 20:47991502-47991502 20:49374965-49374965
23 KCNB1 NM_004975.4(KCNB1):c.1105T>C (p.Trp369Arg)SNV Conflicting interpretations of pathogenicity 633625 rs1569017174 20:47990992-47990992 20:49374455-49374455
24 KCNB1 NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)SNV Conflicting interpretations of pathogenicity 452347 rs1555889084 20:47990907-47990907 20:49374370-49374370
25 KCNB1 NM_004975.4(KCNB1):c.2324C>G (p.Pro775Arg)SNV Conflicting interpretations of pathogenicity 425270 rs530927636 20:47989773-47989773 20:49373236-49373236
26 KCNB1 NM_004975.4(KCNB1):c.2392G>C (p.Glu798Gln)SNV Uncertain significance 430043 rs1131691752 20:47989705-47989705 20:49373168-49373168
27 KCNB1 NM_004975.4(KCNB1):c.2324C>A (p.Pro775His)SNV Uncertain significance 430040 rs530927636 20:47989773-47989773 20:49373236-49373236
28 KCNB1 NM_004975.4(KCNB1):c.2200C>T (p.Pro734Ser)SNV Uncertain significance 475261 rs1214997887 20:47989897-47989897 20:49373360-49373360
29 KCNB1 NM_004975.4(KCNB1):c.1727C>A (p.Thr576Lys)SNV Uncertain significance 475258 rs1355278265 20:47990370-47990370 20:49373833-49373833
30 KCNB1 NM_004975.4(KCNB1):c.605C>T (p.Ser202Phe)SNV Uncertain significance 417935 rs1060499607 20:47991492-47991492 20:49374955-49374955
31 KCNB1 NM_004975.4(KCNB1):c.1388T>C (p.Ile463Thr)SNV Uncertain significance 475257 rs145421532 20:47990709-47990709 20:49374172-49374172
32 KCNB1 NM_004975.4(KCNB1):c.2152G>A (p.Val718Met)SNV Uncertain significance 542056 rs774976039 20:47989945-47989945 20:49373408-49373408
33 KCNB1 NM_004975.4(KCNB1):c.578T>A (p.Ile193Lys)SNV Uncertain significance 475267 rs1555889171 20:47991519-47991519 20:49374982-49374982
34 KCNB1 NM_004975.4(KCNB1):c.2143G>C (p.Asp715His)SNV Uncertain significance 647767 20:47989954-47989954 20:49373417-49373417
35 KCNB1 NM_004975.4(KCNB1):c.2135C>T (p.Thr712Met)SNV Uncertain significance 660973 20:47989962-47989962 20:49373425-49373425
36 KCNB1 NM_004975.4(KCNB1):c.2063T>C (p.Leu688Pro)SNV Uncertain significance 645917 20:47990034-47990034 20:49373497-49373497
37 KCNB1 NM_004975.4(KCNB1):c.1963G>A (p.Glu655Lys)SNV Uncertain significance 639890 20:47990134-47990134 20:49373597-49373597
38 KCNB1 NM_004975.4(KCNB1):c.1862C>T (p.Ala621Val)SNV Uncertain significance 661163 20:47990235-47990235 20:49373698-49373698
39 KCNB1 NM_004975.4(KCNB1):c.2327A>G (p.Lys776Arg)SNV Uncertain significance 578493 rs756982426 20:47989770-47989770 20:49373233-49373233
40 KCNB1 NM_004975.4(KCNB1):c.2203C>G (p.Pro735Ala)SNV Uncertain significance 572894 rs267605983 20:47989894-47989894 20:49373357-49373357
41 KCNB1 NM_004975.4(KCNB1):c.471G>T (p.Glu157Asp)SNV Uncertain significance 582652 rs144926751 20:48098547-48098547 20:49482010-49482010
42 KCNB1 NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu)SNV Uncertain significance 577816 rs936778119 20:48098999-48098999 20:49482462-49482462
43 KCNB1 NM_004975.4(KCNB1):c.863_873delinsG (p.Gln288fs)indel Uncertain significance 666076 20:47991224-47991234 20:49374687-49374697
44 KCNB1 NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)SNV Uncertain significance 647049 20:47991360-47991360 20:49374823-49374823
45 KCNB1 NM_004975.4(KCNB1):c.307C>T (p.Arg103Ter)SNV Uncertain significance 664502 20:48098711-48098711 20:49482174-49482174
46 KCNB1 NM_004975.4(KCNB1):c.117del (p.Leu40fs)deletion Uncertain significance 650825 20:48098901-48098901 20:49482364-49482364
47 KCNB1 NM_004975.4(KCNB1):c.1143A>T (p.Gly381=)SNV Uncertain significance 566869 rs1569017109 20:47990954-47990954 20:49374417-49374417
48 KCNB1 NM_004975.4(KCNB1):c.812T>C (p.Leu271Pro)SNV Uncertain significance 572716 rs1569017375 20:47991285-47991285 20:49374748-49374748
49 KCNB1 NM_004975.4(KCNB1):c.2351C>T (p.Pro784Leu)SNV Uncertain significance 576386 rs766596568 20:47989746-47989746 20:49373209-49373209
50 KCNB1 NM_004975.4(KCNB1):c.2116G>A (p.Ala706Thr)SNV Uncertain significance 581484 rs779750227 20:47989981-47989981 20:49373444-49373444

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

73
# 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 rs155588913
5 KCNB1 p.Val378Ala VAR_075574
6 KCNB1 p.Gly401Arg VAR_075575

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

Pathways related to Epileptic Encephalopathy, Early Infantile, 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.14 TFRC CANX
2
Show member pathways
10.79 KCNB1 KCNA2

GO Terms for Epileptic Encephalopathy, Early Infantile, 26

Cellular components related to Epileptic Encephalopathy, Early Infantile, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.8 TFRC ST8SIA2 KCNB1 KCNA2 CANX
2 perikaryon GO:0043204 9.37 KCNB1 KCNA2
3 recycling endosome GO:0055037 9.32 TFRC ST8SIA2
4 melanosome GO:0042470 9.26 TFRC CANX
5 voltage-gated potassium channel complex GO:0008076 9.16 KCNB1 KCNA2
6 axon GO:0030424 9.13 KCNB1 KCNA2 CANX
7 neuronal cell body membrane GO:0032809 8.62 KCNB1 KCNA2

Biological processes related to Epileptic Encephalopathy, Early Infantile, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.26 KCNB1 KCNA2
2 potassium ion transport GO:0006813 9.16 KCNB1 KCNA2
3 potassium ion transmembrane transport GO:0071805 8.96 KCNB1 KCNA2
4 protein homooligomerization GO:0051260 8.62 KCNB1 KCNA2

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.32 KCNB1 KCNA2
2 voltage-gated ion channel activity GO:0005244 9.26 KCNB1 KCNA2
3 potassium channel activity GO:0005267 9.16 KCNB1 KCNA2
4 voltage-gated potassium channel activity GO:0005249 8.96 KCNB1 KCNA2
5 delayed rectifier potassium channel activity GO:0005251 8.62 KCNB1 KCNA2

Sources for Epileptic Encephalopathy, Early Infantile, 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....