EIEE24
MCID: EPL125
MIFTS: 20

Epileptic Encephalopathy, Early Infantile, 24 (EIEE24)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal 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 58 76 30 6 74
Eiee24 58 76
Encephalopathy, Epileptic, Early Infantile, Type 24 41
Early Infantile Epileptic Encephalopathy 24 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 24:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080429
OMIM 58 615871
MeSH 45 D013036
UMLS 74 C4014531

Summaries for Epileptic Encephalopathy, Early Infantile, 24

UniProtKB/Swiss-Prot : 76 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, is also known as eiee24. An important gene associated with Epileptic Encephalopathy, Early Infantile, 24 is HCN1 (Hyperpolarization Activated Cyclic Nucleotide Gated Potassium Channel 1). 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.

Description from OMIM: 615871

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

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 24

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 24:

33
# Description HPO Frequency HPO Source Accession
1 ataxia 33 occasional (7.5%) HP:0001251
2 intellectual disability 33 HP:0001249
3 behavioral abnormality 33 HP:0000708
4 febrile seizures 33 HP:0002373
5 epileptic encephalopathy 33 HP:0200134

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intellectual disability
febrile seizures
epileptic encephalopathy
ataxia (in some patients)
intractable seizures

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 30 HCN1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 24

Publications for Epileptic Encephalopathy, Early Infantile, 24

Variations for Epileptic Encephalopathy, Early Infantile, 24

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 24:

76
# 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

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

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 HCN1 NM_021072.3(HCN1): c.1201G> C (p.Asp401His) single nucleotide variant Pathogenic rs587777491 GRCh38 Chromosome 5, 45396521: 45396521
2 HCN1 NM_021072.3(HCN1): c.1201G> C (p.Asp401His) single nucleotide variant Pathogenic rs587777491 GRCh37 Chromosome 5, 45396623: 45396623
3 HCN1 NM_021072.3(HCN1): c.299C> T (p.Ser100Phe) single nucleotide variant Pathogenic rs587777492 GRCh38 Chromosome 5, 45695795: 45695795
4 HCN1 NM_021072.3(HCN1): c.299C> T (p.Ser100Phe) single nucleotide variant Pathogenic rs587777492 GRCh37 Chromosome 5, 45695897: 45695897
5 HCN1 NM_021072.3(HCN1): c.814T> C (p.Ser272Pro) single nucleotide variant Pathogenic rs587777493 GRCh38 Chromosome 5, 45645220: 45645220
6 HCN1 NM_021072.3(HCN1): c.814T> C (p.Ser272Pro) single nucleotide variant Pathogenic rs587777493 GRCh37 Chromosome 5, 45645322: 45645322
7 HCN1 NM_021072.3(HCN1): c.890G> C (p.Arg297Thr) single nucleotide variant Pathogenic rs587777494 GRCh38 Chromosome 5, 45461967: 45461967
8 HCN1 NM_021072.3(HCN1): c.890G> C (p.Arg297Thr) single nucleotide variant Pathogenic rs587777494 GRCh37 Chromosome 5, 45462069: 45462069
9 HCN1 NM_021072.3(HCN1): c.835C> T (p.His279Tyr) single nucleotide variant Pathogenic rs587777495 GRCh38 Chromosome 5, 45645199: 45645199
10 HCN1 NM_021072.3(HCN1): c.835C> T (p.His279Tyr) single nucleotide variant Pathogenic rs587777495 GRCh37 Chromosome 5, 45645301: 45645301
11 HCN1 NM_021072.3(HCN1): c.1172G> A (p.Gly391Asp) single nucleotide variant Likely pathogenic rs1057519547 GRCh37 Chromosome 5, 45396652: 45396652
12 HCN1 NM_021072.3(HCN1): c.1172G> A (p.Gly391Asp) single nucleotide variant Likely pathogenic rs1057519547 GRCh38 Chromosome 5, 45396550: 45396550
13 HCN1 NM_021072.3(HCN1): c.414delC (p.Tyr138Terfs) deletion Likely pathogenic rs1554040120 GRCh38 Chromosome 5, 45695680: 45695680
14 HCN1 NM_021072.3(HCN1): c.414delC (p.Tyr138Terfs) deletion Likely pathogenic rs1554040120 GRCh37 Chromosome 5, 45695782: 45695782
15 HCN1 NM_021072.3(HCN1): c.1753A> T (p.Thr585Ser) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 45267119: 45267119
16 HCN1 NM_021072.3(HCN1): c.1753A> T (p.Thr585Ser) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 45267221: 45267221

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

GO Terms for Epileptic Encephalopathy, Early Infantile, 24

Sources for Epileptic Encephalopathy, Early Infantile, 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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