EIEE26
MCID: EPL130
MIFTS: 25

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 57 74 29 6 72
Eiee26 57 53 74
Early Infantile Epileptic Encephalopathy 26 12 53
Encephalopathy, Epileptic, Early Infantile, Type 26 40

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:



External Ids:

Disease Ontology 12 DOID:0080461
MeSH 44 D013036
UMLS 72 C4015119

Summaries for Epileptic Encephalopathy, Early Infantile, 26

UniProtKB/Swiss-Prot : 74 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

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 26

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

32 (show all 6)
# 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 absent speech 32 HP:0001344
5 epileptic encephalopathy 32 HP:0200134
6 hypsarrhythmia 32 HP:0002521

Symptoms via clinical synopsis from OMIM:

57
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 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. 8 71
25164438 2014
2
Clinical whole exome sequencing in child neurology practice. 71
25131622 2014
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
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 86)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNB1 NM_004975.4(KCNB1): c.916C> T (p.Arg306Cys) single nucleotide variant Pathogenic rs1555889130 20:47991181-47991181 20:49374644-49374644
2 KCNB1 NM_004975.4(KCNB1): c.1041C> G (p.Ser347Arg) single nucleotide variant Pathogenic rs587777848 20:47991056-47991056 20:49374519-49374519
3 KCNB1 NM_004975.4(KCNB1): c.629C> T (p.Thr210Met) single nucleotide variant Pathogenic rs1555889162 20:47991468-47991468 20:49374931-49374931
4 KCNB1 NM_004975.4(KCNB1): c.1041C> A (p.Ser347Arg) single nucleotide variant Pathogenic rs587777848 20:47991056-47991056 20:49374519-49374519
5 KCNB1 NM_004975.4(KCNB1): c.1121C> T (p.Thr374Ile) single nucleotide variant Pathogenic rs587777849 20:47990976-47990976 20:49374439-49374439
6 KCNB1 NM_004975.4(KCNB1): c.1135G> A (p.Gly379Arg) single nucleotide variant Pathogenic rs587777850 20:47990962-47990962 20:49374425-49374425
7 KCNB1 NM_004975.4(KCNB1): c.1142G> A (p.Gly381Glu) single nucleotide variant Pathogenic 20:47990955-47990955 20:49374418-49374418
8 KCNB1 NM_004975.4(KCNB1): c.934C> T (p.Arg312Cys) single nucleotide variant Pathogenic/Likely pathogenic rs886039396 20:47991163-47991163 20:49374626-49374626
9 KCNB1 NM_004975.4(KCNB1): c.1153C> A (p.Pro385Thr) single nucleotide variant Likely pathogenic rs1060499592 20:47990944-47990944 20:49374407-49374407
10 KCNB1 NM_004975.4(KCNB1): c.1088del (p.Ser363fs) deletion Likely pathogenic rs1555889103 20:47991009-47991009 20:49374472-49374472
11 KCNB1 NM_004975.4(KCNB1): c.1183G> A (p.Gly395Arg) single nucleotide variant Likely pathogenic rs959316981 20:47990914-47990914 20:49374377-49374377
12 KCNB1 NM_004975.4(KCNB1): c.1001T> C (p.Leu334Pro) single nucleotide variant Likely pathogenic rs1555889108 20:47991096-47991096 20:49374559-49374559
13 KCNB1 NM_004975.4(KCNB1): c.1190G> A (p.Cys397Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs1555889084 20:47990907-47990907 20:49374370-49374370
14 KCNB1 NM_004975.4(KCNB1): c.1297C> T (p.Arg433Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs1064794764 20:47990800-47990800 20:49374263-49374263
15 KCNB1 NM_004975.4(KCNB1): c.2324C> G (p.Pro775Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs530927636 20:47989773-47989773 20:49373236-49373236
16 KCNB1 NM_004975.4(KCNB1): c.908G> A (p.Arg303Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs1057518621 20:47991189-47991189 20:49374652-49374652
17 KCNB1 NM_004975.4(KCNB1): c.1367G> A (p.Arg456Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs761082551 20:47990730-47990730 20:49374193-49374193
18 KCNB1 NM_004975.4(KCNB1): c.1576G> A (p.Val526Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs140932636 20:47990521-47990521 20:49373984-49373984
19 KCNB1 NM_004975.4(KCNB1): c.1997C> T (p.Pro666Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs201212125 20:47990100-47990100 20:49373563-49373563
20 KCNB1 NM_004975.4(KCNB1): c.1105T> C (p.Trp369Arg) single nucleotide variant Conflicting interpretations of pathogenicity 20:47990992-47990992 20:49374455-49374455
21 KCNB1 NM_004975.4(KCNB1): c.2143G> C (p.Asp715His) single nucleotide variant Uncertain significance 20:47989954-47989954 20:49373417-49373417
22 KCNB1 NM_004975.4(KCNB1): c.2135C> T (p.Thr712Met) single nucleotide variant Uncertain significance 20:47989962-47989962 20:49373425-49373425
23 KCNB1 NM_004975.4(KCNB1): c.2063T> C (p.Leu688Pro) single nucleotide variant Uncertain significance 20:47990034-47990034 20:49373497-49373497
24 KCNB1 NM_004975.4(KCNB1): c.1963G> A (p.Glu655Lys) single nucleotide variant Uncertain significance 20:47990134-47990134 20:49373597-49373597
25 KCNB1 NM_004975.4(KCNB1): c.1862C> T (p.Ala621Val) single nucleotide variant Uncertain significance 20:47990235-47990235 20:49373698-49373698
26 KCNB1 NM_004975.4(KCNB1): c.1705G> A (p.Val569Ile) single nucleotide variant Uncertain significance 20:47990392-47990392 20:49373855-49373855
27 KCNB1 NM_004975.4(KCNB1): c.1655C> T (p.Ala552Val) single nucleotide variant Uncertain significance 20:47990442-47990442 20:49373905-49373905
28 KCNB1 NM_004975.4(KCNB1): c.1458C> G (p.Asn486Lys) single nucleotide variant Uncertain significance 20:47990639-47990639 20:49374102-49374102
29 KCNB1 NM_004975.4(KCNB1): c.1217C> T (p.Ala406Val) single nucleotide variant Uncertain significance 20:47990880-47990880 20:49374343-49374343
30 KCNB1 NM_004975.4(KCNB1): c.863_873delinsG (p.Gln288fs) indel Uncertain significance 20:47991224-47991234 20:49374687-49374697
31 KCNB1 NM_004975.4(KCNB1): c.737T> G (p.Leu246Arg) single nucleotide variant Uncertain significance 20:47991360-47991360 20:49374823-49374823
32 KCNB1 NM_004975.4(KCNB1): c.307C> T (p.Arg103Ter) single nucleotide variant Uncertain significance 20:48098711-48098711 20:49482174-49482174
33 KCNB1 NM_004975.4(KCNB1): c.117del (p.Leu40fs) deletion Uncertain significance 20:48098901-48098901 20:49482369-49482369
34 KCNB1 NM_004975.4(KCNB1): c.2320C> A (p.Pro774Thr) single nucleotide variant Uncertain significance 20:47989777-47989777 20:49373240-49373240
35 KCNB1 NM_004975.4(KCNB1): c.1143A> T (p.Gly381=) single nucleotide variant Uncertain significance 20:47990954-47990954 20:49374417-49374417
36 KCNB1 NM_004975.4(KCNB1): c.812T> C (p.Leu271Pro) single nucleotide variant Uncertain significance 20:47991285-47991285 20:49374748-49374748
37 KCNB1 NM_004975.4(KCNB1): c.2351C> T (p.Pro784Leu) single nucleotide variant Uncertain significance 20:47989746-47989746 20:49373209-49373209
38 KCNB1 NM_004975.4(KCNB1): c.2116G> A (p.Ala706Thr) single nucleotide variant Uncertain significance 20:47989981-47989981 20:49373444-49373444
39 KCNB1 NM_004975.4(KCNB1): c.126C> G (p.His42Gln) single nucleotide variant Uncertain significance 20:48098892-48098892 20:49482355-49482355
40 KCNB1 NM_004975.4(KCNB1): c.1266G> C (p.Glu422Asp) single nucleotide variant Uncertain significance 20:47990831-47990831 20:49374294-49374294
41 KCNB1 NM_004975.4(KCNB1): c.2327A> G (p.Lys776Arg) single nucleotide variant Uncertain significance 20:47989770-47989770 20:49373233-49373233
42 KCNB1 NM_004975.4(KCNB1): c.2272G> A (p.Ala758Thr) single nucleotide variant Uncertain significance 20:47989825-47989825 20:49373288-49373288
43 KCNB1 NM_004975.4(KCNB1): c.2203C> G (p.Pro735Ala) single nucleotide variant Uncertain significance 20:47989894-47989894 20:49373357-49373357
44 KCNB1 NM_004975.4(KCNB1): c.2009G> A (p.Arg670Gln) single nucleotide variant Uncertain significance 20:47990088-47990088 20:49373551-49373551
45 KCNB1 NM_004975.4(KCNB1): c.1393G> A (p.Val465Ile) single nucleotide variant Uncertain significance 20:47990704-47990704 20:49374167-49374167
46 KCNB1 NM_004975.4(KCNB1): c.471G> T (p.Glu157Asp) single nucleotide variant Uncertain significance 20:48098547-48098547 20:49482010-49482010
47 KCNB1 NM_004975.4(KCNB1): c.19A> G (p.Lys7Glu) single nucleotide variant Uncertain significance 20:48098999-48098999 20:49482462-49482462
48 KCNB1 NM_004975.4(KCNB1): c.2105C> A (p.Ala702Glu) single nucleotide variant Uncertain significance 20:47989992-47989992 20:49373455-49373455
49 KCNB1 NM_004975.4(KCNB1): c.1336G> A (p.Val446Ile) single nucleotide variant Uncertain significance 20:47990761-47990761 20:49374224-49374224
50 KCNB1 NM_004975.4(KCNB1): c.2152G> A (p.Val718Met) single nucleotide variant Uncertain significance rs774976039 20:47989945-47989945 20:49373408-49373408

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

74
# 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

GO Terms for Epileptic Encephalopathy, Early Infantile, 26

Sources for Epileptic Encephalopathy, Early Infantile, 26

3 CDC
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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