EIEE24
MCID: EPL125
MIFTS: 35

Epileptic Encephalopathy, Early Infantile, 24 (EIEE24)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 24

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 24:

Name: Epileptic Encephalopathy, Early Infantile, 24 56 73 29 6 71
Early Infantile Epileptic Encephalopathy 24 12 15
Eiee24 56 73
Encephalopathy, Epileptic, Early Infantile, Type 24 39

Characteristics:

OMIM:

56
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
epileptic encephalopathy, early infantile, 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080429
OMIM 56 615871
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
UMLS 71 C4014531

Summaries for Epileptic Encephalopathy, Early Infantile, 24

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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 24, also known as early infantile epileptic encephalopathy 24, is related to palmoplantar keratoderma, mutilating, with periorificial keratotic plaques and canavan disease. An important gene associated with Epileptic Encephalopathy, Early Infantile, 24 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1), and among its related pathways/superpathways is TRP channels. Affiliated tissues include brain, eye and bone, and related phenotypes are ataxia and intellectual disability

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the HCN1 gene on chromosome 5p12.

More information from OMIM: 615871 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 24

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
Epileptic Encephalopathy, Early Infantile, 77 Epileptic Encephalopathy, Early Infantile, 78
Epileptic Encephalopathy, Early Infantile, 79 Epileptic Encephalopathy, Early Infantile, 80
Epileptic Encephalopathy, Early Infantile, 81 Epileptic Encephalopathy, Early Infantile, 82
Epileptic Encephalopathy, Early Infantile, 83 Arx-Related Epileptic Encephalopathy

Diseases related to Epileptic Encephalopathy, Early Infantile, 24 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, mutilating, with periorificial keratotic plaques 10.2 TRPV3 SPATA22
2 canavan disease 10.1 SPATA22 SHPK ASPA
3 histiocytoid hemangioma 10.0 MALAT1 FOS
4 epilepsy, idiopathic generalized 9.9 MALAT1 HCN1 GABRA1
5 dentin sensitivity 9.7 TRPV3 TRPV1
6 childhood absence epilepsy 9.7 SLC1A2 MALAT1 HCN1 GABRA1
7 gilles de la tourette syndrome 9.6 HCN1 FGF10 DRD3
8 morphine dependence 9.5 SLC1A2 FOS
9 essential tremor 9.5 SLC1A2 LINGO1 HS1BP3 DRD3
10 parkinson disease, late-onset 9.1 STH MALAT1 LINGO1 HS1BP3 DRD3 ASPA
11 specific developmental disorder 9.0 TRPV1 FOS DRD3
12 migraine with or without aura 1 8.6 TRPV3 TRPV1 SLC1A2 FOS DRD3

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 24:



Diseases related to Epileptic Encephalopathy, Early Infantile, 24

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 24

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 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 seizures 31 HP:0002373

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 24

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 24

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 24

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 24:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 24

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 24:

40
Brain, Eye, Bone, Liver

Publications for Epileptic Encephalopathy, Early Infantile, 24

Articles related to Epileptic Encephalopathy, Early Infantile, 24:

# Title Authors PMID Year
1
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. 56 6
30351409 2018
2
De novo mutations in HCN1 cause early infantile epileptic encephalopathy. 56 6
24747641 2014
3
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
4
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008

Variations for Epileptic Encephalopathy, Early Infantile, 24

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 24:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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.1172G>A (p.Gly391Asp)SNV Likely pathogenic 375529 rs1057519547 5:45396652-45396652 5:45396550-45396550
7 HCN1 NM_021072.4(HCN1):c.459G>C (p.Met153Ile)SNV Likely pathogenic 375530 rs1057519548 5:45645677-45645677 5:45645575-45645575
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.203_205GCG[6] (p.Gly74del)short repeat Conflicting interpretations of pathogenicity 581499 rs747975797 5:45695973-45695975 5:45695871-45695873
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.1753A>T (p.Thr585Ser)SNV Uncertain significance 587588 rs1561081327 5:45267221-45267221 5:45267119-45267119
12 HCN1 NM_021072.4(HCN1):c.2019G>A (p.Leu673=)SNV Uncertain significance 625958 rs767602409 5:45262677-45262677 5:45262575-45262575
13 HCN1 NM_021072.4(HCN1):c.203_205GCG[4] (p.Gly72_Gly74del)short repeat Benign/Likely benign 193441 rs747975797 5:45695973-45695981 5:45695871-45695879

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 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
9 HCN1 p.Ile397Leu VAR_082668
10 HCN1 p.Ser399Pro VAR_082669

Expression for Epileptic Encephalopathy, Early Infantile, 24

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 24.

Pathways for Epileptic Encephalopathy, Early Infantile, 24

Pathways related to Epileptic Encephalopathy, Early Infantile, 24 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.02 TRPV3 TRPV1

GO Terms for Epileptic Encephalopathy, Early Infantile, 24

Cellular components related to Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 24 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.35 TRPV3 TRPV1 SLC1A2 HCN1 GABRA1
2 cellular response to extracellular stimulus GO:0031668 8.62 SLC1A2 FOS

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 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 Epileptic Encephalopathy, Early Infantile, 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
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43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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