DEE24
MCID: DVL050
MIFTS: 36

Developmental and Epileptic Encephalopathy 24 (DEE24)

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 24

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 24:

Name: Developmental and Epileptic Encephalopathy 24 57 12
Epileptic Encephalopathy, Early Infantile, 24 57 73 29 6
Early Infantile Epileptic Encephalopathy 24 12 15
Eiee24 57 73
Dee24 57 12
Epileptic Encephalopathy, Early Infantile, 24; Eiee24 57
Encephalopathy, Epileptic, Early Infantile, Type 24 39

Characteristics:

OMIM®:

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

Miscellaneous:
de novo mutation
onset usually in the first year of life
seizures tend to become more focal with age


HPO:

31
developmental and epileptic encephalopathy 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080429
OMIM® 57 615871
OMIM Phenotypic Series 57 PS308350
MeSH 44 D013036

Summaries for Developmental and Epileptic Encephalopathy 24

OMIM® : 57 Developmental and epileptic encephalopathy-24 (DEE24) is a neurologic disorder characterized by onset of refractory seizures in infancy, severely impaired global development, intellectual disability, and behavioral abnormalities. Most patients have onset of variable types of seizures between 4 and 13 months of age, but earlier onset in the first days of life has also been reported. Seizures are often triggered by fever, at least initially; status epilepticus may occur (summary by Nava et al., 2014 and Marini et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350. (615871) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 24, also known as epileptic encephalopathy, early infantile, 24, is related to fraser syndrome 3 and palmoplantar keratoderma, nonepidermolytic. An important gene associated with Developmental and Epileptic Encephalopathy 24 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1), and among its related pathways/superpathways are Trk receptor signaling mediated by the MAPK pathway and TRP channels. Affiliated tissues include brain, and related phenotypes are ataxia and intellectual disability

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has material basis in heterozygous mutation in the HCN1 gene on chromosome 5p12.

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 24: A disease characterized by early-onset seizures, intellectual disability of varying degrees, and behavioral disturbances or autistic features in most individuals.

Related Diseases for Developmental and Epileptic Encephalopathy 24

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 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 fraser syndrome 3 10.2 SPATA22 ASPA
2 palmoplantar keratoderma, nonepidermolytic 10.2 TRPV3 SPATA22
3 palmoplantar keratoderma, nonepidermolytic, focal 2 10.2 TRPV3 SPATA22
4 canavan disease 10.1 SPATA22 SHPK ASPA
5 lingual-facial-buccal dyskinesia 10.0 STH DRD3
6 dentin sensitivity 9.9 TRPV3 TRPV1
7 gilles de la tourette syndrome 9.9 HCN1 FGF10 DRD3
8 facial dermatosis 9.8 TRPV3 TRPV1
9 tremor, hereditary essential, 2 9.8 SLC1A2 LINGO1 DRD3
10 tremor, hereditary essential, 3 9.8 SLC1A2 LINGO1 DRD3
11 tremor, hereditary essential, 1 9.8 SLC1A2 LINGO1 DRD3
12 morphine dependence 9.7 SLC1A2 FOS
13 trigeminal nerve disease 9.7 TRPV1 FOS
14 schaaf-yang syndrome 9.7 TRPV1 FOS
15 dravet syndrome 9.7 TRPV1 HCN1 GABRA1
16 trigeminal neuralgia 9.7 TRPV1 FOS
17 mutilating palmoplantar keratoderma with periorificial keratotic plaques 9.7 TRPV3 TRPV1
18 childhood absence epilepsy 9.6 SLC1A2 HCN1 GABRA1 FOS
19 essential tremor 9.6 SLC1A2 LINGO1 GABRA1 DRD3
20 familial episodic pain syndrome 9.5 TRPV3 TRPV1
21 migraine with or without aura 1 9.0 TRPV3 TRPV1 SLC1A2 FOS DRD3

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 24:



Diseases related to Developmental and Epileptic Encephalopathy 24

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 24

Human phenotypes related to Developmental and Epileptic Encephalopathy 24:

31
# Description HPO Frequency HPO Source Accession
1 ataxia 31 occasional (7.5%) HP:0001251
2 intellectual disability 31 HP:0001249
3 behavioral abnormality 31 HP:0000708
4 epileptic encephalopathy 31 HP:0200134
5 febrile seizure (within the age range of 3 months to 6 years) 31 HP:0002373

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
febrile seizures
ataxia (in some patients)
intractable seizures
more
Neurologic Behavioral Psychiatric Manifestations:
autistic features
behavioral disturbances

Clinical features from OMIM®:

615871 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Developmental and Epileptic Encephalopathy 24:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.32 ASPA DRD3 FGF10 FOS GABRA1 HCN1

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 24

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 24

Genetic Tests for Developmental and Epileptic Encephalopathy 24

Genetic tests related to Developmental and Epileptic Encephalopathy 24:

# Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 24 29 HCN1

Anatomical Context for Developmental and Epileptic Encephalopathy 24

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 24:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 24

Articles related to Developmental and Epileptic Encephalopathy 24:

# Title Authors PMID Year
1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 6 57
30351409 2018
2
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 57 6
24747641 2014

Variations for Developmental and Epileptic Encephalopathy 24

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 24:

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HCN1 NM_021072.4(HCN1):c.1201G>C (p.Asp401His) SNV Pathogenic 139571 rs587777491 5:45396623-45396623 5:45396521-45396521
2 HCN1 NM_021072.4(HCN1):c.299C>T (p.Ser100Phe) SNV Pathogenic 139572 rs587777492 5:45695897-45695897 5:45695795-45695795
3 HCN1 NM_021072.4(HCN1):c.814T>C (p.Ser272Pro) SNV Pathogenic 139573 rs587777493 5:45645322-45645322 5:45645220-45645220
4 HCN1 NM_021072.4(HCN1):c.890G>C (p.Arg297Thr) SNV Pathogenic 139574 rs587777494 5:45462069-45462069 5:45461967-45461967
5 HCN1 NM_021072.4(HCN1):c.835C>T (p.His279Tyr) SNV Pathogenic 139575 rs587777495 5:45645301-45645301 5:45645199-45645199
6 HCN1 NM_021072.4(HCN1):c.459G>C (p.Met153Ile) SNV Pathogenic 375530 rs1057519548 5:45645677-45645677 5:45645575-45645575
7 HCN1 NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp) SNV Likely pathogenic 375529 rs1057519547 5:45396652-45396652 5:45396550-45396550
8 HCN1 NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer) Deletion Likely pathogenic 496679 rs1554040120 5:45695782-45695782 5:45695680-45695680
9 HCN1 NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) SNV Uncertain significance 587588 rs1561081327 5:45267221-45267221 5:45267119-45267119
10 HCN1 NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) SNV Uncertain significance 576892 rs150936707 5:45262306-45262306 5:45262204-45262204
11 HCN1 NM_021072.4(HCN1):c.2019G>A (p.Leu673=) SNV Uncertain significance 625958 rs767602409 5:45262677-45262677 5:45262575-45262575
12 HCN1 NM_021072.4(HCN1):c.1012-3C>T SNV Uncertain significance 983135 5:45396815-45396815 5:45396713-45396713
13 HCN1 NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) SNV Uncertain significance 848402 5:45396641-45396641 5:45396539-45396539
14 HCN1 NM_021072.4(HCN1):c.203_205GCG[6] (p.Gly74del) Microsatellite Likely benign 581499 rs747975797 5:45695973-45695975 5:45695871-45695873
15 HCN1 NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del) Microsatellite Likely benign 193441 rs747975797 5:45695973-45695981 5:45695871-45695879

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 24:

73
# Symbol AA change Variation ID SNP ID
1 HCN1 p.Ser100Phe VAR_071826 rs587777492
2 HCN1 p.Ser272Pro VAR_071827 rs587777493
3 HCN1 p.His279Tyr VAR_071828 rs587777495
4 HCN1 p.Arg297Thr VAR_071829 rs587777494
5 HCN1 p.Asp401His VAR_071830 rs587777491
6 HCN1 p.Met153Ile VAR_078216 rs105751954
7 HCN1 p.Gly391Asp VAR_078217 rs105751954
8 HCN1 p.Met305Leu VAR_082663 rs105752198
9 HCN1 p.Ile397Leu VAR_082668
10 HCN1 p.Ser399Pro VAR_082669

Expression for Developmental and Epileptic Encephalopathy 24

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 24.

Pathways for Developmental and Epileptic Encephalopathy 24

Pathways related to Developmental and Epileptic Encephalopathy 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.45 TRPV1 FOS
2 10.02 TRPV3 TRPV1

GO Terms for Developmental and Epileptic Encephalopathy 24

Cellular components related to Developmental and Epileptic Encephalopathy 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.17 TRPV3 TRPV1 SLC1A2 HCN1 GABRA1 EMB

Biological processes related to Developmental and Epileptic Encephalopathy 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.55 TRPV3 TRPV1 SLC1A2 HCN1 GABRA1
2 glutamate secretion GO:0014047 9.32 TRPV1 SLC1A2
3 response to light stimulus GO:0009416 9.26 SLC1A2 FOS
4 calcium ion import across plasma membrane GO:0098703 8.96 TRPV3 TRPV1
5 cellular response to extracellular stimulus GO:0031668 8.62 SLC1A2 FOS

Molecular functions related to Developmental and Epileptic Encephalopathy 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.92 TRPV3 TRPV1 HCN1 GABRA1

Sources for Developmental and Epileptic Encephalopathy 24

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
Content
Loading form....