DEE26
MCID: DVL052
MIFTS: 37

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 72 29 6 70
Early Infantile Epileptic Encephalopathy 26 12 20 15
Eiee26 57 20 72
Dee26 57 12
Epileptic Encephalopathy, Early Infantile, 26; Eiee26 57
Encephalopathy, Epileptic, Early Infantile, Type 26 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-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
UMLS 70 C4015119

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-Apr-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 26, also known as epileptic encephalopathy, early infantile, 26, is related to kcnb1 encephalopathy and episodic ataxia, type 1. 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 : 72 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 91 Developmental and Epileptic Encephalopathy 57
Developmental and Epileptic Encephalopathy 92 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 93
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:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 kcnb1 encephalopathy 11.4
2 episodic ataxia, type 1 9.9 KCNB1 KCNA2
3 benign neonatal seizures 9.9 KCNB1 KCNA2
4 neonatal period electroclinical syndrome 9.9 KCNB1 KCNA2
5 paroxysmal extreme pain disorder 9.8 KCNB1 KCNA2
6 dravet syndrome 9.8 KCNB1 KCNA2
7 long qt syndrome 1 9.8 KCNB1 KCNA2
8 undetermined early-onset epileptic encephalopathy 9.7 KCNB1 KCNA2
9 mucopolysaccharidosis, type ii 9.7 TFRC CANX
10 west syndrome 9.7 KCNB1 KCNA2
11 early infantile epileptic encephalopathy 9.6 KCNB1 KCNA2
12 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-Apr-2021)
Neurologic Central Nervous System:
hypsarrhythmia
epileptic encephalopathy
hypotonia
delayed psychomotor development
poor or absent speech
more

Clinical features from OMIM®:

616056 (Updated 05-Apr-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:

(show all 12)
# Title Authors PMID Year
1
De novo KCNB1 mutations in epileptic encephalopathy. 6 57
25164438 2014
2
Genotype-phenotype correlation on 45 individuals with West syndrome. 6
31791873 2020
3
Monogenic disorders that mimic the phenotype of Rett syndrome. 6
29322350 2018
4
Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 6
29264397 2017
5
Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 6
28806457 2017
6
The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. 6
28252636 2017
7
Novel KCNB1 mutation associated with non-syndromic intellectual disability. 6
27928161 2017
8
[A novel mutation in KCNB1 gene in a child with neuropsychiatric comorbidities with both intellectual disability and epilepsy and review of literature]. 6
28173649 2017
9
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
10
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 6
26477325 2015
11
Clinical whole exome sequencing in child neurology practice. 6
25131622 2014
12
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 184)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNB1 NM_004975.4(KCNB1):c.1041C>A (p.Ser347Arg) SNV Pathogenic 156533 rs587777848 GRCh37: 20:47991056-47991056
GRCh38: 20:49374519-49374519
2 KCNB1 NM_004975.4(KCNB1):c.1135G>A (p.Gly379Arg) SNV Pathogenic 156535 rs587777850 GRCh37: 20:47990962-47990962
GRCh38: 20:49374425-49374425
3 KCNB1 NM_004975.4(KCNB1):c.1142G>A (p.Gly381Glu) SNV Pathogenic 576946 rs1569017114 GRCh37: 20:47990955-47990955
GRCh38: 20:49374418-49374418
4 KCNB1 NM_004975.4(KCNB1):c.1528G>T (p.Gly510Ter) SNV Pathogenic 828102 rs1601070652 GRCh37: 20:47990569-47990569
GRCh38: 20:49374032-49374032
5 KCNB1 NM_004975.4(KCNB1):c.1109G>A (p.Trp370Ter) SNV Pathogenic 916589 GRCh37: 20:47990988-47990988
GRCh38: 20:49374451-49374451
6 KCNB1 NM_004975.4(KCNB1):c.1121C>T (p.Thr374Ile) SNV Pathogenic 156534 rs587777849 GRCh37: 20:47990976-47990976
GRCh38: 20:49374439-49374439
7 KCNB1 NM_004975.4(KCNB1):c.1041C>G (p.Ser347Arg) SNV Pathogenic 475255 GRCh37: 20:47991056-47991056
GRCh38: 20:49374519-49374519
8 KCNB1 NM_004975.4(KCNB1):c.1045G>T (p.Val349Phe) SNV Pathogenic 633624 rs1569017205 GRCh37: 20:47991052-47991052
GRCh38: 20:49374515-49374515
9 KCNB1 NM_004975.4(KCNB1):c.1136G>T (p.Gly379Val) SNV Pathogenic 1031489 GRCh37: 20:47990961-47990961
GRCh38: 20:49374424-49374424
10 KCNB1 NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) SNV Pathogenic/Likely pathogenic 542057 rs1555889162 GRCh37: 20:47991468-47991468
GRCh38: 20:49374931-49374931
11 KCNB1 NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys) SNV Pathogenic/Likely pathogenic 265207 GRCh37: 20:47991163-47991163
GRCh38: 20:49374626-49374626
12 KCNB1 NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter) SNV Pathogenic/Likely pathogenic 420881 rs1064794764 GRCh37: 20:47990800-47990800
GRCh38: 20:49374263-49374263
13 KCNB1 NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) SNV Likely pathogenic 959038 GRCh37: 20:47991111-47991111
GRCh38: 20:49374574-49374574
14 KCNB1 NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr) SNV Likely pathogenic 417907 rs1060499592 GRCh37: 20:47990944-47990944
GRCh38: 20:49374407-49374407
15 KCNB1 NM_004975.4(KCNB1):c.917G>A (p.Arg306His) SNV Likely pathogenic 982573 GRCh37: 20:47991180-47991180
GRCh38: 20:49374643-49374643
16 KCNB1 NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter) SNV Likely pathogenic 633637 rs781663444 GRCh37: 20:47990350-47990350
GRCh38: 20:49373813-49373813
17 KCNB1 NM_004975.4(KCNB1):c.1246T>C (p.Phe416Leu) SNV Likely pathogenic 859281 GRCh37: 20:47990851-47990851
GRCh38: 20:49374314-49374314
18 KCNB1 NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val) SNV Likely pathogenic 943655 GRCh37: 20:47990952-47990952
GRCh38: 20:49374415-49374415
19 KCNB1 NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser) SNV Likely pathogenic 800948 rs1601071085 GRCh37: 20:47990875-47990875
GRCh38: 20:49374338-49374338
20 KCNB1 NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser) SNV Likely pathogenic 803612 rs1601071747 GRCh37: 20:47991283-47991283
GRCh38: 20:49374746-49374746
21 KCNB1 NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe) SNV Likely pathogenic 803613 rs1601072041 GRCh37: 20:47991502-47991502
GRCh38: 20:49374965-49374965
22 KCNB1 NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro) SNV Likely pathogenic 559895 rs1555889108 GRCh37: 20:47991096-47991096
GRCh38: 20:49374559-49374559
23 KCNB1 NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val) SNV Likely pathogenic 659148 rs1601071099 GRCh37: 20:47990880-47990880
GRCh38: 20:49374343-49374343
24 KCNB1 NM_004975.4(KCNB1):c.1088del (p.Ser363fs) Deletion Likely pathogenic 542055 rs1555889103 GRCh37: 20:47991009-47991009
GRCh38: 20:49374472-49374472
25 KCNB1 NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln) SNV Likely pathogenic 373805 rs1057518621 GRCh37: 20:47991189-47991189
GRCh38: 20:49374652-49374652
26 KCNB1 NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) SNV Conflicting interpretations of pathogenicity 647049 rs1601071839 GRCh37: 20:47991360-47991360
GRCh38: 20:49374823-49374823
27 KCNB1 NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) SNV Conflicting interpretations of pathogenicity 449693 rs1555889130 GRCh37: 20:47991181-47991181
GRCh38: 20:49374644-49374644
28 KCNB1 NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg) SNV Conflicting interpretations of pathogenicity 545438 rs959316981 GRCh37: 20:47990914-47990914
GRCh38: 20:49374377-49374377
29 KCNB1 NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) SNV Conflicting interpretations of pathogenicity 982681 GRCh37: 20:47990860-47990860
GRCh38: 20:49374323-49374323
30 KCNB1 NM_004975.4(KCNB1):c.2524C>T (p.Arg842Cys) SNV Uncertain significance 998443 GRCh37: 20:47989573-47989573
GRCh38: 20:49373036-49373036
31 KCNB1 NM_004975.4(KCNB1):c.754C>T (p.Pro252Ser) SNV Uncertain significance 998500 GRCh37: 20:47991343-47991343
GRCh38: 20:49374806-49374806
32 KCNB1 NM_004975.4(KCNB1):c.2345C>G (p.Thr782Ser) SNV Uncertain significance 1002068 GRCh37: 20:47989752-47989752
GRCh38: 20:49373215-49373215
33 KCNB1 NC_000020.10:g.(?_47989500)_(47991549_?)del Deletion Uncertain significance 1003855 GRCh37: 20:47989500-47991549
GRCh38:
34 KCNB1 NM_004975.4(KCNB1):c.2180C>G (p.Thr727Ser) SNV Uncertain significance 1004111 GRCh37: 20:47989917-47989917
GRCh38: 20:49373380-49373380
35 KCNB1 NM_004975.4(KCNB1):c.2460G>T (p.Leu820Phe) SNV Uncertain significance 1006183 GRCh37: 20:47989637-47989637
GRCh38: 20:49373100-49373100
36 KCNB1 NM_004975.4(KCNB1):c.2201C>A (p.Pro734His) SNV Uncertain significance 1006665 GRCh37: 20:47989896-47989896
GRCh38: 20:49373359-49373359
37 KCNB1 NM_004975.4(KCNB1):c.2092C>T (p.Arg698Trp) SNV Uncertain significance 1007454 GRCh37: 20:47990005-47990005
GRCh38: 20:49373468-49373468
38 KCNB1 NM_004975.4(KCNB1):c.1723C>T (p.Arg575Cys) SNV Uncertain significance 392965 rs947355756 GRCh37: 20:47990374-47990374
GRCh38: 20:49373837-49373837
39 KCNB1 NM_004975.4(KCNB1):c.2329A>G (p.Ser777Gly) SNV Uncertain significance 1009790 GRCh37: 20:47989768-47989768
GRCh38: 20:49373231-49373231
40 KCNB1 NM_004975.4(KCNB1):c.1529G>T (p.Gly510Val) SNV Uncertain significance 864105 GRCh37: 20:47990568-47990568
GRCh38: 20:49374031-49374031
41 KCNB1 NM_004975.4(KCNB1):c.83C>T (p.Ala28Val) SNV Uncertain significance 936998 GRCh37: 20:48098935-48098935
GRCh38: 20:49482398-49482398
42 KCNB1 NM_004975.4(KCNB1):c.2093G>A (p.Arg698Gln) SNV Uncertain significance 938351 GRCh37: 20:47990004-47990004
GRCh38: 20:49373467-49373467
43 KCNB1 NM_004975.4(KCNB1):c.1130C>T (p.Thr377Ile) SNV Uncertain significance 941236 GRCh37: 20:47990967-47990967
GRCh38: 20:49374430-49374430
44 KCNB1 NM_004975.4(KCNB1):c.1960A>T (p.Ile654Phe) SNV Uncertain significance 947824 GRCh37: 20:47990137-47990137
GRCh38: 20:49373600-49373600
45 KCNB1 NM_004975.4(KCNB1):c.1345A>G (p.Asn449Asp) SNV Uncertain significance 953558 GRCh37: 20:47990752-47990752
GRCh38: 20:49374215-49374215
46 KCNB1 NM_004975.4(KCNB1):c.752C>T (p.Ser251Leu) SNV Uncertain significance 1016853 GRCh37: 20:47991345-47991345
GRCh38: 20:49374808-49374808
47 KCNB1 NM_004975.4(KCNB1):c.1693A>G (p.Ile565Val) SNV Uncertain significance 391756 rs761452916 GRCh37: 20:47990404-47990404
GRCh38: 20:49373867-49373867
48 KCNB1 NM_004975.4(KCNB1):c.1444C>A (p.His482Asn) SNV Uncertain significance 1017488 GRCh37: 20:47990653-47990653
GRCh38: 20:49374116-49374116
49 KCNB1 NM_004975.4(KCNB1):c.2512T>C (p.Ser838Pro) SNV Uncertain significance 1020008 GRCh37: 20:47989585-47989585
GRCh38: 20:49373048-49373048
50 KCNB1 NM_004975.4(KCNB1):c.2560C>T (p.Arg854Ter) SNV Uncertain significance 1021756 GRCh37: 20:47989537-47989537
GRCh38: 20:49373000-49373000

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

72
# 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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