MCID: DVL113
MIFTS: 45

Developmental and Epileptic Encephalopathy

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

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy:

Name: Developmental and Epileptic Encephalopathy 12 6

Classifications:



External Ids:

Disease Ontology 12 DOID:0112202

Summaries for Developmental and Epileptic Encephalopathy

Disease Ontology : 12 An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood.

MalaCards based summary : Developmental and Epileptic Encephalopathy is related to developmental and epileptic encephalopathy 13 and developmental and epileptic encephalopathy 4. An important gene associated with Developmental and Epileptic Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuroscience. The drugs tannic acid and Ezogabine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and skin, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Developmental and Epileptic Encephalopathy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 197)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 13 32.9 SCN8A SCN1A
2 developmental and epileptic encephalopathy 4 32.7 STXBP1 CDKL5
3 developmental and epileptic encephalopathy 14 32.6 SCN8A SCN1A CDKL5
4 developmental and epileptic encephalopathy 5 32.6 SPTAN1 KCNQ2
5 stxbp1 encephalopathy 32.5 STXBP1 CDKL5
6 developmental and epileptic encephalopathy 9 32.4 STXBP1 SCN1A KCNQ2 CDKL5
7 developmental and epileptic encephalopathy 1 31.9 STXBP1 SLC25A22 SCN1A KCNQ2 GNAO1 CDKL5
8 dravet syndrome 31.1 STXBP1 SLC25A22 SCN8A SCN1A LOC102724058 KCNQ2
9 genetic epilepsy with febrile seizures plus 30.4 SCN1A LOC102724058
10 generalized epilepsy with febrile seizures plus, type 1 30.3 SCN1A LOC102724058
11 alacrima, achalasia, and mental retardation syndrome 30.3 STXBP1 SCN1A LOC102724058 KCNQ2 KCNB1 CDKL5
12 focal epilepsy 30.0 SPTAN1 SCN8A SCN1A LOC102724058 CDKL5
13 encephalopathy 30.0 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A KCNQ2
14 seizure disorder 30.0 STXBP1 SPTAN1 SCN8A SCN1A LOC102724058 KCNQ2
15 febrile seizures 29.9 SCN8A SCN1A LOC102724058 KCNQ2 HCN1
16 benign familial neonatal epilepsy 29.7 STXBP1 SCN8A SCN1A KCNQ2 CDKL5
17 early myoclonic encephalopathy 29.6 STXBP1 SLC25A22 SCN8A SCN1A KCNQ2 CDKL5
18 lennox-gastaut syndrome 29.4 STXBP1 SLC25A22 SCN8A SCN1A KCNQ2 KCNB1
19 generalized epilepsy with febrile seizures plus 29.3 STXBP1 SCN8A SCN1A LOC102724058 KCNQ2 HCN1
20 autism 29.3 STXBP1 SCN8A SCN1A LOC102724058 HCN1 CDKL5
21 west syndrome 28.9 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
22 disease of mental health 28.9 STXBP1 SCN8A SCN1A LOC102724058 KCNQ2 KCNB1
23 epilepsy 28.4 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A LOC102724058
24 early infantile epileptic encephalopathy 26.1 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
25 ohtahara syndrome 25.9 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
26 developmental and epileptic encephalopathy 57 11.8
27 developmental and epileptic encephalopathy 69 11.8
28 developmental and epileptic encephalopathy 76 11.8
29 developmental and epileptic encephalopathy 56 11.7
30 developmental and epileptic encephalopathy 58 11.7
31 developmental and epileptic encephalopathy 60 11.7
32 developmental and epileptic encephalopathy 63 11.7
33 developmental and epileptic encephalopathy 65 11.7
34 developmental and epileptic encephalopathy 66 11.7
35 developmental and epileptic encephalopathy 67 11.7
36 developmental and epileptic encephalopathy 68 11.7
37 developmental and epileptic encephalopathy 70 11.7
38 developmental and epileptic encephalopathy 71 11.7
39 developmental and epileptic encephalopathy 72 11.7
40 developmental and epileptic encephalopathy 73 11.7
41 developmental and epileptic encephalopathy 74 11.7
42 developmental and epileptic encephalopathy 75 11.7
43 developmental and epileptic encephalopathy 78 11.7
44 developmental and epileptic encephalopathy 80 11.7
45 developmental and epileptic encephalopathy 81 11.7
46 developmental and epileptic encephalopathy 84 11.7
47 developmental and epileptic encephalopathy 88 11.7
48 multiple congenital anomalies-hypotonia-seizures syndrome 4 11.7
49 developmental and epileptic encephalopathy 89 11.7
50 developmental and epileptic encephalopathy 64 11.7

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



Diseases related to Developmental and Epileptic Encephalopathy

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.73 ACTL6B CACNA1E CACNA2D2 CDKL5 GNAO1 HCN1
2 nervous system MP:0003631 9.47 ACTL6B ARHGEF15 CACNA1E CACNA2D2 CDKL5 GNAO1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy

Drugs for Developmental and Epileptic Encephalopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 3 1401-55-4
2
Ezogabine Approved, Investigational Phase 3 150812-12-7 121892
3
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
4 Anticonvulsants Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 3 Study of Adjunctive XEN496 in Pediatric Subjects With KCNQ2 Developmental and Epileptic Encephalopathy Not yet recruiting NCT04639310 Phase 3 XEN496;Placebo

Search NIH Clinical Center for Developmental and Epileptic Encephalopathy

Genetic Tests for Developmental and Epileptic Encephalopathy

Anatomical Context for Developmental and Epileptic Encephalopathy

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy:

40
Brain, Cortex, Skin, Cardiac Myocytes

Publications for Developmental and Epileptic Encephalopathy

Articles related to Developmental and Epileptic Encephalopathy:

(show top 50) (show all 467)
# Title Authors PMID Year
1
Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy. 61 6
31418850 2019
2
Channelopathy as a SUDEP Biomarker in Dravet Syndrome Patient-Derived Cardiac Myocytes. 61 6
30146492 2018
3
The phenotype of SCN8A developmental and epileptic encephalopathy. 61 6
30171078 2018
4
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. 6 61
29100083 2017
5
Not all SCN1A epileptic encephalopathies are Dravet syndrome: Early profound Thr226Met phenotype. 61 6
28794249 2017
6
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 6
31152295 2019
7
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy. 6
31422819 2019
8
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 6
31255830 2019
9
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series. 6
31439038 2019
10
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series. 6
31199083 2019
11
Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children. 6
31009440 2019
12
Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability. 6
30615093 2019
13
Data on mutations and Clinical features in SCN1A or SCN2A gene. 6
30619928 2019
14
Multimodal Analysis of SCN1A Missense Variants Improves Interpretation of Clinically Relevant Variants in Dravet Syndrome. 6
31001185 2019
15
Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy. 6
29933521 2019
16
Genotype and phenotype analysis using an epilepsy-associated gene panel in Chinese pediatric epilepsy patients. 6
30182498 2018
17
Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome. 6
30558019 2018
18
De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy. 6
29896790 2018
19
Dravet syndrome in South African infants: Tools for an early diagnosis. 6
30321769 2018
20
Novel mutations and phenotypes of epilepsy-associated genes in epileptic encephalopathies. 6
29314583 2018
21
Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation. 6
30174244 2018
22
Novel and de novo mutations in pediatric refractory epilepsy. 6
30185235 2018
23
Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. 6
29655203 2018
24
Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life. 6
29720203 2018
25
Prospective cohort study for identification of underlying genetic causes in neonatal encephalopathy using whole-exome sequencing. 6
28817111 2018
26
Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes. 6
29460957 2018
27
Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness. 6
29314763 2018
28
Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients. 6
28708303 2018
29
Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing. 6
29390993 2018
30
[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases]. 6
29429461 2018
31
De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy. 6
29121005 2018
32
Lack of correlation between surface expression and currents in epileptogenic AB-calmodulin binding domain Kv7.2 potassium channel mutants. 6
30126342 2018
33
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. 6
28687180 2018
34
Efficacy of Stiripentol in Dravet Syndrome with or without SCN1A Mutations. 6
29141279 2018
35
Whole-genome analysis for effective clinical diagnosis and gene discovery in early infantile epileptic encephalopathy. 6
30109124 2018
36
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort. 6
29215089 2018
37
Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization. 6
29644095 2018
38
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. 6
29264391 2017
39
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 6
29056246 2017
40
Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management. 6
28973083 2017
41
A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations. 6
29186148 2017
42
Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort. 6
29142202 2017
43
Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. 6
28965491 2017
44
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. 6
28947817 2017
45
Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes. 6
28867141 2017
46
Genetic epilepsy with febrile seizures plus: Refining the spectrum. 6
28842445 2017
47
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. 6
29050398 2017
48
SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures. 6
28923014 2017
49
A mutation in GABRB3 associated with Dravet syndrome. 6
28544625 2017
50
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders. 6
28688840 2017

Variations for Developmental and Epileptic Encephalopathy

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy:

6 (show top 50) (show all 3604)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CACNA2D2 , CYB561D2 NM_006030.4(CACNA2D2):c.3119T>C (p.Leu1040Pro) SNV Pathogenic 40230 rs587776948 GRCh37: 3:50402595-50402595
GRCh38: 3:50365164-50365164
2 KCNQ2 NM_172107.4(KCNQ2):c.1386_1387TG[1] (p.Val463fs) Microsatellite Pathogenic 242008 rs878855236 GRCh37: 20:62046392-62046393
GRCh38: 20:63415039-63415040
3 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4282G>T (p.Val1428Phe) SNV Pathogenic 238603 rs878854263 GRCh37: 2:166858984-166858984
GRCh38: 2:166002474-166002474
4 STXBP1 NM_003165.4(STXBP1):c.798T>G (p.Tyr266Ter) SNV Pathogenic 239512 rs751170778 GRCh37: 9:130430362-130430362
GRCh38: 9:127668083-127668083
5 STXBP1 NM_003165.4(STXBP1):c.1434G>A (p.Trp478Ter) SNV Pathogenic 407777 rs1060501722 GRCh37: 9:130440784-130440784
GRCh38: 9:127678505-127678505
6 CACNA2D2 NM_006030.4(CACNA2D2):c.485_486del (p.Tyr161_Tyr162insTer) Deletion Pathogenic 411003 rs1060503108 GRCh37: 3:50425023-50425024
GRCh38: 3:50387592-50387593
7 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3631dup (p.Cys1211fs) Duplication Pathogenic 408920 rs1060502182 GRCh37: 2:166870327-166870328
GRCh38: 2:166013817-166013818
8 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5765T>G (p.Ile1922Ser) SNV Pathogenic 408935 rs121917981 GRCh37: 2:166848020-166848020
GRCh38: 2:165991510-165991510
9 SCN1A NM_001165963.4(SCN1A):c.312del (p.Thr105fs) Deletion Pathogenic 408929 rs1060502187 GRCh37: 2:166915151-166915151
GRCh38: 2:166058641-166058641
10 STXBP1 NM_003165.4(STXBP1):c.265del (p.Ser89fs) Deletion Pathogenic 407778 rs1060501723 GRCh37: 9:130422327-130422327
GRCh38: 9:127660048-127660048
11 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4236del (p.Lys1412_Val1413insTer) Deletion Pathogenic 408921 rs1060502183 GRCh37: 2:166859030-166859030
GRCh38: 2:166002520-166002520
12 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4061G>T (p.Cys1354Phe) SNV Pathogenic 408922 rs1057521537 GRCh37: 2:166859205-166859205
GRCh38: 2:166002695-166002695
13 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3822T>G (p.Tyr1274Ter) SNV Pathogenic 408930 rs1060502188 GRCh37: 2:166868676-166868676
GRCh38: 2:166012166-166012166
14 SCN1A NM_001165963.4(SCN1A):c.938_941del (p.Asp313fs) Deletion Pathogenic 461285 rs1553549483 GRCh37: 2:166908252-166908255
GRCh38: 2:166051742-166051745
15 SCN1A NM_001165963.4(SCN1A):c.2669T>C (p.Leu890Pro) SNV Pathogenic 461256 rs1553541473 GRCh37: 2:166894563-166894563
GRCh38: 2:166038053-166038053
16 SCN1A NM_001165963.4(SCN1A):c.566del (p.Pro189fs) Deletion Pathogenic 461282 rs1553551385 GRCh37: 2:166911184-166911184
GRCh38: 2:166054674-166054674
17 KCNQ2 NM_172107.4(KCNQ2):c.915C>G (p.Phe305Leu) SNV Pathogenic 461423 rs775918190 GRCh37: 20:62070963-62070963
GRCh38: 20:63439610-63439610
18 KCNQ2 NM_172107.4(KCNQ2):c.1525+1G>A SNV Pathogenic 21763 rs118192228 GRCh37: 20:62046255-62046255
GRCh38: 20:63414902-63414902
19 SCN1A NM_001165963.4(SCN1A):c.454dup (p.Asp152fs) Duplication Pathogenic 461273 rs1553552319 GRCh37: 2:166912939-166912940
GRCh38: 2:166056429-166056430
20 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3082del (p.Arg1028fs) Deletion Pathogenic 461260 rs1553540389 GRCh37: 2:166892905-166892905
GRCh38: 2:166036395-166036395
21 KCNQ2 NC_000020.11:g.(?_63419599)_(63439728_?)del Deletion Pathogenic 461212 GRCh37:
GRCh38: 20:63419599-63439728
22 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3431_3432del (p.Lys1144fs) Deletion Pathogenic 461263 rs1553534296 GRCh37: 2:166872235-166872236
GRCh38: 2:166015725-166015726
23 overlap with 6 genes NC_000002.12:g.(?_165874735)_(166311776_?)del Deletion Pathogenic 471073 GRCh37: 2:166731245-167168286
GRCh38: 2:165874735-166311776
24 SCN1A NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) Deletion Pathogenic 461250 rs1553543215 GRCh37: 2:166897805-166897806
GRCh38: 2:166041295-166041296
25 KCNQ2 NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) SNV Pathogenic 219235 rs864321707 GRCh37: 20:62070961-62070961
GRCh38: 20:63439608-63439608
26 SCN1A NM_001165963.4(SCN1A):c.2947G>A (p.Val983Ile) SNV Pathogenic 461261 rs1553540503 GRCh37: 2:166893040-166893040
GRCh38: 2:166036530-166036530
27 overlap with 5 genes NC_000020.11:g.(?_63444639)_(63528152_?)del Deletion Pathogenic 461213 GRCh37:
GRCh38: 20:63444639-63528152
28 SCN1A NM_001165963.4(SCN1A):c.2261G>A (p.Trp754Ter) SNV Pathogenic 461248 rs794726743 GRCh37: 2:166897895-166897895
GRCh38: 2:166041385-166041385
29 SCN1A NM_001165963.4(SCN1A):c.1931_1939delinsA (p.Thr644fs) Indel Pathogenic 461246 rs1553544579 GRCh37: 2:166900283-166900291
GRCh38: 2:166043773-166043781
30 SCN1A , LOC102724058 NM_006920.6(SCN1A):c.4306-1G>A SNV Pathogenic 461271 rs1553522517 GRCh37: 2:166854686-166854686
GRCh38: 2:165998176-165998176
31 SCN1A NM_001165963.4(SCN1A):c.2565_2568dup (p.Val857fs) Duplication Pathogenic 461253 rs1553542199 GRCh37: 2:166895953-166895954
GRCh38: 2:166039443-166039444
32 SCN1A NM_001165963.4(SCN1A):c.580G>T (p.Asp194Tyr) SNV Pathogenic 461284 rs121917935 GRCh37: 2:166911170-166911170
GRCh38: 2:166054660-166054660
33 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4109C>T (p.Ala1370Val) SNV Pathogenic 461269 rs1553525210 GRCh37: 2:166859157-166859157
GRCh38: 2:166002647-166002647
34 STXBP1 NC_000009.12:g.(?_127658355)_(127658471_?)del Deletion Pathogenic 461208 GRCh37:
GRCh38: 9:127658355-127658471
35 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4462del (p.Gln1488fs) Deletion Pathogenic 461272 rs1553522321 GRCh37: 2:166854562-166854562
GRCh38: 2:165998052-165998052
36 KCNQ2 NC_000020.11:g.(?_63406624)_(63439728_?)del Deletion Pathogenic 461211 GRCh37:
GRCh38: 20:63406624-63439728
37 KCNQ2 NM_172107.4(KCNQ2):c.439del (p.Ala147fs) Deletion Pathogenic 530406 rs1555873981 GRCh37: 20:62076666-62076666
GRCh38: 20:63445313-63445313
38 KCNQ2 NM_172107.4(KCNQ2):c.687del (p.Ser229fs) Deletion Pathogenic 530407 rs1555873656 GRCh37: 20:62076015-62076015
GRCh38: 20:63444662-63444662
39 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3997del (p.Gly1332_Met1333insTer) Deletion Pathogenic 530413 rs1553529426 GRCh37: 2:166866234-166866234
GRCh38: 2:166009724-166009724
40 CDKL5 NM_001323289.2(CDKL5):c.751delinsTC (p.Ala251fs) Indel Pathogenic 523629 rs1555951141 GRCh37: X:18613474-18613474
GRCh38: X:18595354-18595354
41 SCN1A NM_001165963.4(SCN1A):c.1958T>A (p.Leu653Ter) SNV Pathogenic 530404 rs1553544559 GRCh37: 2:166900264-166900264
GRCh38: 2:166043754-166043754
42 KCNQ2 NM_172107.4(KCNQ2):c.1086C>G (p.Tyr362Ter) SNV Pathogenic 530424 rs747376305 GRCh37: 20:62065194-62065194
GRCh38: 20:63433841-63433841
43 KCNQ2 NM_172107.4(KCNQ2):c.848del (p.Lys283fs) Deletion Pathogenic 530425 rs1555870506 GRCh37: 20:62071030-62071030
GRCh38: 20:63439677-63439677
44 SLC25A22 NM_001191061.2(SLC25A22):c.271C>T (p.Arg91Ter) SNV Pathogenic 530429 rs936639741 GRCh37: 11:793551-793551
GRCh38: 11:793551-793551
45 SLC25A22 NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter) SNV Pathogenic 436749 rs1554965669 GRCh37: 11:792888-792888
GRCh38: 11:792888-792888
46 STXBP1 NM_003165.4(STXBP1):c.734A>G (p.His245Arg) SNV Pathogenic 160070 rs587784453 GRCh37: 9:130428515-130428515
GRCh38: 9:127666236-127666236
47 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.5263G>T (p.Asp1755Tyr) SNV Pathogenic 530440 rs927722314 GRCh37: 2:166848522-166848522
GRCh38: 2:165992012-165992012
48 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4174_4186del (p.Asn1392fs) Deletion Pathogenic 530449 rs1553525036 GRCh37: 2:166859080-166859092
GRCh38: 2:166002570-166002582
49 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3106C>T (p.Gln1036Ter) SNV Pathogenic 189975 rs542420576 GRCh37: 2:166892881-166892881
GRCh38: 2:166036371-166036371
50 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.4333A>T (p.Arg1445Ter) SNV Pathogenic 530452 rs1553523142 GRCh37: 2:166856238-166856238
GRCh38: 2:165999728-165999728

Expression for Developmental and Epileptic Encephalopathy

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

Pathways for Developmental and Epileptic Encephalopathy

GO Terms for Developmental and Epileptic Encephalopathy

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.2 UBA5 STXBP1 SPTAN1 SLC25A22 SCN8A SCN1A
2 axon GO:0030424 9.55 STXBP1 SCN8A SCN1A KCNB1 HCN1
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN8A SCN1A
4 axon initial segment GO:0043194 9.13 SCN8A SCN1A KCNQ2
5 node of Ranvier GO:0033268 8.8 SCN8A SCN1A KCNQ2

Biological processes related to Developmental and Epileptic Encephalopathy according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.76 SCN8A SCN1A KCNQ2 KCNB1
2 transmembrane transport GO:0055085 9.76 SLC25A22 SCN8A SCN1A KCNQ2 KCNH5 KCNB1
3 sodium ion transport GO:0006814 9.7 SCN8A SCN1A HCN1
4 regulation of membrane potential GO:0042391 9.65 SCN1A KCNH5 HCN1
5 potassium ion transport GO:0006813 9.62 KCNQ2 KCNH5 KCNB1 HCN1
6 ion transport GO:0006811 9.61 SLC25A22 SCN8A SCN1A KCNQ2 KCNH5 KCNB1
7 sodium ion transmembrane transport GO:0035725 9.58 SCN8A SCN1A HCN1
8 potassium ion transmembrane transport GO:0071805 9.56 KCNQ2 KCNH5 KCNB1 HCN1
9 regulation of insulin secretion GO:0050796 9.54 KCNB1 CACNA2D2 CACNA1E
10 action potential GO:0001508 9.51 SCN1A KCNB1
11 positive regulation of calcium ion-dependent exocytosis GO:0045956 9.49 STXBP1 KCNB1
12 membrane depolarization during action potential GO:0086010 9.43 SCN8A SCN1A
13 regulation of ion transmembrane transport GO:0034765 9.23 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1

Molecular functions related to Developmental and Epileptic Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 potassium channel activity GO:0005267 9.56 KCNQ2 KCNH5 KCNB1 HCN1
2 sodium channel activity GO:0005272 9.54 SCN8A SCN1A HCN1
3 voltage-gated sodium channel activity GO:0005248 9.5 SCN8A SCN1A HCN1
4 ion channel activity GO:0005216 9.5 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1
5 voltage-gated potassium channel activity GO:0005249 9.46 KCNQ2 KCNH5 KCNB1 HCN1
6 voltage-gated cation channel activity GO:0022843 9.4 HCN1 CACNA1E
7 voltage-gated ion channel activity GO:0005244 9.23 SCN8A SCN1A KCNQ2 KCNH5 KCNB1 HCN1

Sources for Developmental and Epileptic Encephalopathy

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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