MCID: EPL125
MIFTS: 19

Epileptic Encephalopathy, Early Infantile, 24

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Mental diseases, Liver diseases, Metabolic diseases, Muscle diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 24

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

Name: Epileptic Encephalopathy, Early Infantile, 24 57 75 29 6 73
Eiee24 57 75
Encephalopathy, Epileptic, Early Infantile, Type 24 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
epileptic encephalopathy, early infantile, 24:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 24

UniProtKB/Swiss-Prot : 75 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 behavioral abnormality and intellectual disability

Description from OMIM: 615871

Related Diseases for Epileptic Encephalopathy, Early Infantile, 24

Diseases in the 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, 25
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
Infantile Epileptic Encephalopathy 56 Infantile Epileptic Encephalopathy 55
Infantile Epileptic Encephalopathy 57 Infantile Epileptic Encephalopathy 58
Infantile Epileptic Encephalopathy 59

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 24

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
epileptic encephalopathy
intellectual disability
intractable seizures
febrile seizures
ataxia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
behavioral disturbances
autistic features


Clinical features from OMIM:

615871

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

32
# Description HPO Frequency HPO Source Accession
1 behavioral abnormality 32 HP:0000708
2 intellectual disability 32 HP:0001249
3 ataxia 32 occasional (7.5%) HP:0001251
4 febrile seizures 32 HP:0002373
5 epileptic encephalopathy 32 HP:0200134

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

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:

75
# 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 rs1057519548Epileptic
7 HCN1 p.Gly391Asp VAR_078217 rs1057519547Epileptic

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

6
(show all 14)
# 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 GRCh38 Chromosome 5, 45396550: 45396550
12 HCN1 NM_021072.3(HCN1): c.1172G> A (p.Gly391Asp) single nucleotide variant Likely pathogenic rs1057519547 GRCh37 Chromosome 5, 45396652: 45396652
13 HCN1 NM_021072.3(HCN1): c.414delC (p.Tyr138Terfs) deletion Likely pathogenic GRCh38 Chromosome 5, 45695680: 45695680
14 HCN1 NM_021072.3(HCN1): c.414delC (p.Tyr138Terfs) deletion Likely pathogenic GRCh37 Chromosome 5, 45695782: 45695782

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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