DEE26
MCID: DVL052
MIFTS: 36

Developmental and Epileptic Encephalopathy 26 (DEE26)

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

Aliases & Classifications for Developmental and Epileptic Encephalopathy 26

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 26:

Name: Developmental and Epileptic Encephalopathy 26 57 12
Epileptic Encephalopathy, Early Infantile, 26 57 73 29 6
Early Infantile Epileptic Encephalopathy 26 12 20 15
Eiee26 57 20 73
Dee26 57 12
Epileptic Encephalopathy, Early Infantile, 26; Eiee26 57
Encephalopathy, Epileptic, Early Infantile, Type 26 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
seizures are refractory to treatment
onset in late infancy or in the first years of life


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080461
OMIM® 57 616056
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 26

OMIM® : 57 Developmental and epileptic encephalopathy-26 (DEE26) is a neurologic disorder characterized by onset of variable types of seizures late in infancy or in the first years of life. Affected children show developmental delay with intellectual disability, poor speech, and behavioral abnormalities. EEG shows multifocal epileptic discharges, and may show hypsarrhythmia (summary by Torkamani et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (616056) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 26, also known as epileptic encephalopathy, early infantile, 26, is related to episodic ataxia, type 1 and benign neonatal seizures. An important gene associated with Developmental and Epileptic Encephalopathy 26 is KCNB1 (Potassium Voltage-Gated Channel Subfamily B Member 1), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Phagosome. Related phenotypes are global developmental delay and absent speech

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has material basis in heterozygous mutation in the KCNB1 gene on chromosome 20q13.

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.

Related Diseases for Developmental and Epileptic Encephalopathy 26

Diseases in the Developmental and Epileptic Encephalopathy family:

Developmental and Epileptic Encephalopathy 9 Developmental and Epileptic Encephalopathy 8
Developmental and Epileptic Encephalopathy 2 Developmental and Epileptic Encephalopathy 36
Developmental and Epileptic Encephalopathy 90 Developmental and Epileptic Encephalopathy 1
Developmental and Epileptic Encephalopathy 3 Developmental and Epileptic Encephalopathy 4
Developmental and Epileptic Encephalopathy 39 Developmental and Epileptic Encephalopathy 5
Developmental and Epileptic Encephalopathy 7 Developmental and Epileptic Encephalopathy 11
Developmental and Epileptic Encephalopathy 12 Developmental and Epileptic Encephalopathy 13
Developmental and Epileptic Encephalopathy 14 Developmental and Epileptic Encephalopathy 15
Developmental and Epileptic Encephalopathy 16 Developmental and Epileptic Encephalopathy 17
Developmental and Epileptic Encephalopathy 18 Developmental and Epileptic Encephalopathy 19
Developmental and Epileptic Encephalopathy 21 Developmental and Epileptic Encephalopathy 23
Developmental and Epileptic Encephalopathy 24 Developmental and Epileptic Encephalopathy 26
Developmental and Epileptic Encephalopathy 27 Developmental and Epileptic Encephalopathy 28
Developmental and Epileptic Encephalopathy 29 Developmental and Epileptic Encephalopathy 30
Developmental and Epileptic Encephalopathy 31 Developmental and Epileptic Encephalopathy 32
Developmental and Epileptic Encephalopathy 33 Developmental and Epileptic Encephalopathy 50
Developmental and Epileptic Encephalopathy 34 Developmental and Epileptic Encephalopathy 35
Developmental and Epileptic Encephalopathy 37 Developmental and Epileptic Encephalopathy 38
Developmental and Epileptic Encephalopathy 40 Developmental and Epileptic Encephalopathy 41
Developmental and Epileptic Encephalopathy 42 Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy 44 Developmental and Epileptic Encephalopathy 45
Developmental and Epileptic Encephalopathy 46 Developmental and Epileptic Encephalopathy 47
Developmental and Epileptic Encephalopathy 48 Developmental and Epileptic Encephalopathy 49
Developmental and Epileptic Encephalopathy 51 Developmental and Epileptic Encephalopathy 52
Developmental and Epileptic Encephalopathy 53 Developmental and Epileptic Encephalopathy 54
Developmental and Epileptic Encephalopathy 55 Developmental and Epileptic Encephalopathy 56
Developmental and Epileptic Encephalopathy 57 Developmental and Epileptic Encephalopathy 58
Developmental and Epileptic Encephalopathy 59 Developmental and Epileptic Encephalopathy 60
Developmental and Epileptic Encephalopathy 61 Developmental and Epileptic Encephalopathy 62
Developmental and Epileptic Encephalopathy 63 Developmental and Epileptic Encephalopathy 64
Developmental and Epileptic Encephalopathy 65 Developmental and Epileptic Encephalopathy 66
Developmental and Epileptic Encephalopathy 67 Developmental and Epileptic Encephalopathy 68
Developmental and Epileptic Encephalopathy 69 Developmental and Epileptic Encephalopathy 70
Developmental and Epileptic Encephalopathy 71 Developmental and Epileptic Encephalopathy 72
Developmental and Epileptic Encephalopathy 73 Developmental and Epileptic Encephalopathy 74
Developmental and Epileptic Encephalopathy 75 Developmental and Epileptic Encephalopathy 76
Developmental and Epileptic Encephalopathy 78 Developmental and Epileptic Encephalopathy 79
Developmental and Epileptic Encephalopathy 80 Developmental and Epileptic Encephalopathy 81
Developmental and Epileptic Encephalopathy 82 Developmental and Epileptic Encephalopathy 83
Developmental and Epileptic Encephalopathy 84 Developmental and Epileptic Encephalopathy 86
Developmental and Epileptic Encephalopathy 87 Developmental and Epileptic Encephalopathy 88
Developmental and Epileptic Encephalopathy 89

Diseases related to Developmental and Epileptic Encephalopathy 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 benign neonatal seizures 9.8 KCNB1 KCNA2
3 paroxysmal extreme pain disorder 9.8 KCNB1 KCNA2
4 dravet syndrome 9.8 KCNB1 KCNA2
5 long qt syndrome 1 9.7 KCNB1 KCNA2
6 mucopolysaccharidosis, type ii 9.7 TFRC CANX
7 undetermined early-onset epileptic encephalopathy 9.7 KCNB1 KCNA2
8 early infantile epileptic encephalopathy 9.6 KCNB1 KCNA2
9 disease of mental health 9.1 TFRC KCNB1 KCNA2 CANX

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 26:



Diseases related to Developmental and Epileptic Encephalopathy 26

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 26

Human phenotypes related to Developmental and Epileptic Encephalopathy 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®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
hypotonia
delayed psychomotor development
poor or absent speech
more

Clinical features from OMIM®:

616056 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 26:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 8.92 CANX KCNA2 KCNB1 TFRC

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 26

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 26

Genetic Tests for Developmental and Epileptic Encephalopathy 26

Genetic tests related to Developmental and Epileptic Encephalopathy 26:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 26 29 KCNB1

Anatomical Context for Developmental and Epileptic Encephalopathy 26

Publications for Developmental and Epileptic Encephalopathy 26

Articles related to Developmental and Epileptic Encephalopathy 26:

# Title Authors PMID Year
1
De novo KCNB1 mutations in epileptic encephalopathy. 6 57
25164438 2014
2
Clinical whole exome sequencing in child neurology practice. 6
25131622 2014
3
Establishment of an induced pluripotent stem cell line (ZJSHi001-A) from a patient with epileptic encephalopathy carrying KCNB1 Glu330Asp mutation. 61
33607466 2021

Variations for Developmental and Epileptic Encephalopathy 26

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 26:

6 (show top 50) (show all 160)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KCNB1 NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) SNV Pathogenic 156533 rs587777848 20:47991056-47991056 20:49374519-49374519
2 KCNB1 NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) SNV Pathogenic 156534 rs587777849 20:47990976-47990976 20:49374439-49374439
3 KCNB1 NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) SNV Pathogenic 156535 rs587777850 20:47990962-47990962 20:49374425-49374425
4 KCNB1 NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) SNV Pathogenic 475255 20:47991056-47991056 20:49374519-49374519
5 KCNB1 NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) SNV Pathogenic 576946 rs1569017114 20:47990955-47990955 20:49374418-49374418
6 KCNB1 NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) SNV Pathogenic 828102 rs1601070652 20:47990569-47990569 20:49374032-49374032
7 KCNB1 NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) SNV Pathogenic 916589 20:47990988-47990988 20:49374451-49374451
8 KCNB1 NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) SNV Pathogenic/Likely pathogenic 265207 20:47991163-47991163 20:49374626-49374626
9 KCNB1 NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) SNV Pathogenic/Likely pathogenic 420881 rs1064794764 20:47990800-47990800 20:49374263-49374263
10 KCNB1 NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) SNV Pathogenic/Likely pathogenic 542057 rs1555889162 20:47991468-47991468 20:49374931-49374931
11 KCNB1 NM_004975.4(KCNB1):c.1088del (p.Ser363fs) Deletion Likely pathogenic 542055 rs1555889103 20:47991009-47991009 20:49374472-49374472
12 KCNB1 NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) SNV Likely pathogenic 417907 rs1060499592 20:47990944-47990944 20:49374407-49374407
13 KCNB1 NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) SNV Likely pathogenic 559895 rs1555889108 20:47991096-47991096 20:49374559-49374559
14 KCNB1 NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) SNV Likely pathogenic 659148 rs1601071099 20:47990880-47990880 20:49374343-49374343
15 KCNB1 NM_004975.4(KCNB1):c.917G>A (p.Arg306His) SNV Likely pathogenic 982573 20:47991180-47991180 20:49374643-49374643
16 KCNB1 NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) SNV Likely pathogenic 982681 20:47990860-47990860 20:49374323-49374323
17 KCNB1 NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) SNV Likely pathogenic 633637 rs781663444 20:47990350-47990350 20:49373813-49373813
18 KCNB1 NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) SNV Likely pathogenic 943655 20:47990952-47990952 20:49374415-49374415
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.908G>A (p.Arg303Gln) SNV Likely pathogenic 373805 rs1057518621 20:47991189-47991189 20:49374652-49374652
21 KCNB1 NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) SNV Likely pathogenic 800948 rs1601071085 20:47990875-47990875 20:49374338-49374338
22 KCNB1 NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) SNV Likely pathogenic 803612 rs1601071747 20:47991283-47991283 20:49374746-49374746
23 KCNB1 NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) SNV Likely pathogenic 803613 rs1601072041 20:47991502-47991502 20:49374965-49374965
24 KCNB1 NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) SNV Likely pathogenic 959038 20:47991111-47991111 20:49374574-49374574
25 KCNB1 NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) SNV Conflicting interpretations of pathogenicity 545438 rs959316981 20:47990914-47990914 20:49374377-49374377
26 KCNB1 NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) SNV Conflicting interpretations of pathogenicity 449693 rs1555889130 20:47991181-47991181 20:49374644-49374644
27 KCNB1 NM_004975.4(KCNB1):c.898C>T (p.Arg300Cys) SNV Uncertain significance 983032 20:47991199-47991199 20:49374662-49374662
28 KCNB1 NM_004975.4(KCNB1):c.856G>A (p.Val286Met) SNV Uncertain significance 946306 20:47991241-47991241 20:49374704-49374704
29 KCNB1 NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) SNV Uncertain significance 947824 20:47990137-47990137 20:49373600-49373600
30 KCNB1 NM_004975.4(KCNB1):c.1355A>G (p.Asp452Gly) SNV Uncertain significance 948656 20:47990742-47990742 20:49374205-49374205
31 KCNB1 NM_004975.4(KCNB1):c.432G>A (p.Met144Ile) SNV Uncertain significance 950197 20:48098586-48098586 20:49482049-49482049
32 KCNB1 NM_004975.4(KCNB1):c.2272G>T (p.Ala758Ser) SNV Uncertain significance 951533 20:47989825-47989825 20:49373288-49373288
33 KCNB1 NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) SNV Uncertain significance 953558 20:47990752-47990752 20:49374215-49374215
34 KCNB1 NM_004975.4(KCNB1):c.1123A>G (p.Met375Val) SNV Uncertain significance 957470 20:47990974-47990974 20:49374437-49374437
35 KCNB1 NM_004975.4(KCNB1):c.2410A>G (p.Thr804Ala) SNV Uncertain significance 957516 20:47989687-47989687 20:49373150-49373150
36 KCNB1 NM_004975.4(KCNB1):c.2537G>T (p.Gly846Val) SNV Uncertain significance 958081 20:47989560-47989560 20:49373023-49373023
37 KCNB1 NM_004975.4(KCNB1):c.2099G>A (p.Ser700Asn) SNV Uncertain significance 961786 20:47989998-47989998 20:49373461-49373461
38 KCNB1 NM_004975.4(KCNB1):c.1787_1788del (p.Thr596fs) Microsatellite Uncertain significance 963107 20:47990309-47990310 20:49373772-49373773
39 KCNB1 NM_004975.4(KCNB1):c.2204C>T (p.Pro735Leu) SNV Uncertain significance 964616 20:47989893-47989893 20:49373356-49373356
40 KCNB1 NM_004975.4(KCNB1):c.1446C>A (p.His482Gln) SNV Uncertain significance 970573 20:47990651-47990651 20:49374114-49374114
41 KCNB1 NM_004975.4(KCNB1):c.1139A>G (p.Tyr380Cys) SNV Uncertain significance 633630 rs1569017123 20:47990958-47990958 20:49374421-49374421
42 KCNB1 NM_004975.4(KCNB1):c.1015G>C (p.Ala339Pro) SNV Uncertain significance 860413 20:47991082-47991082 20:49374545-49374545
43 KCNB1 NM_004975.4(KCNB1):c.703G>A (p.Val235Met) SNV Uncertain significance 863356 20:47991394-47991394 20:49374857-49374857
44 KCNB1 NM_004975.4(KCNB1):c.2124G>A (p.Leu708=) SNV Uncertain significance 863505 20:47989973-47989973 20:49373436-49373436
45 KCNB1 NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) SNV Uncertain significance 864105 20:47990568-47990568 20:49374031-49374031
46 KCNB1 NM_004975.4(KCNB1):c.1594A>G (p.Met532Val) SNV Uncertain significance 870207 20:47990503-47990503 20:49373966-49373966
47 KCNB1 NM_004975.4(KCNB1):c.1366C>G (p.Arg456Gly) SNV Uncertain significance 934441 20:47990731-47990731 20:49374194-49374194
48 KCNB1 NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) SNV Uncertain significance 936998 20:48098935-48098935 20:49482398-49482398
49 KCNB1 NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) SNV Uncertain significance 938351 20:47990004-47990004 20:49373467-49373467
50 KCNB1 NM_004975.4(KCNB1):c.1606A>T (p.Met536Leu) SNV Uncertain significance 938424 20:47990491-47990491 20:49373954-49373954

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 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 Developmental and Epileptic Encephalopathy 26

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 26.

Pathways for Developmental and Epileptic Encephalopathy 26

Pathways related to Developmental and Epileptic Encephalopathy 26 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.51 KCNB1 KCNA2
2 11.14 TFRC CANX
3
Show member pathways
10.79 KCNB1 KCNA2

GO Terms for Developmental and Epileptic Encephalopathy 26

Cellular components related to Developmental and Epileptic Encephalopathy 26 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 perikaryon GO:0043204 9.32 KCNB1 KCNA2
2 melanosome GO:0042470 9.26 TFRC CANX
3 voltage-gated potassium channel complex GO:0008076 9.16 KCNB1 KCNA2
4 axon GO:0030424 9.13 KCNB1 KCNA2 CANX
5 neuronal cell body membrane GO:0032809 8.62 KCNB1 KCNA2

Biological processes related to Developmental and Epileptic Encephalopathy 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 Developmental and Epileptic Encephalopathy 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 Developmental and Epileptic Encephalopathy 26

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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