MCID: EPL027
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 4

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 4

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 4:

Name: Epileptic Encephalopathy, Early Infantile, 4 54 24 71 13 69
Early Myoclonic Encephalopathy 71 69
Eiee4 24 71
Early Infantile Epileptic Encephalopathy with Suppression Bursts 69
Neonatal Epilepsy with Suppression-Burst Pattern 71
Ohtahara Syndrome 24
Eme 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
onset in neonatal period or infancy
seizures are fever-sensitive
seizures are usually intractable


HPO:

32
epileptic encephalopathy, early infantile, 4:
Onset and clinical course variable expressivity neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 4

UniProtKB/Swiss-Prot : 71 Epileptic encephalopathy, early infantile, 4: A severe form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Affected individuals have neonatal or infantile onset of seizures, profound mental retardation, and MRI evidence of brain hypomyelination.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 4, also known as early myoclonic encephalopathy, is related to epileptic encephalopathy, early infantile, 15 and eosinophilia-myalgia syndrome, and has symptoms including tremor, intellectual disability, severe and absent speech. An important gene associated with Epileptic Encephalopathy, Early Infantile, 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain.

Description from OMIM: 612164

Related Diseases for Epileptic Encephalopathy, Early Infantile, 4

Diseases in the Infantile Epileptic Encephalopathy family:

Epileptic Encephalopathy, Early Infantile, 18 Epileptic Encephalopathy, Early Infantile, 15
Epileptic Encephalopathy, Early Infantile, 23 Epileptic Encephalopathy, Early Infantile, 32
Epileptic Encephalopathy, Early Infantile, 38 Epileptic Encephalopathy, Early Infantile, 54
Epileptic Encephalopathy, Early Infantile, 50 Epileptic Encephalopathy, Early Infantile, 11
Epileptic Encephalopathy, Early Infantile, 6 Epileptic Encephalopathy, Early Infantile, 39
Epileptic Encephalopathy, Early Infantile, 44 Epileptic Encephalopathy, Early Infantile, 47
Epileptic Encephalopathy, Early Infantile, 45 Epileptic Encephalopathy, Early Infantile, 40
Epileptic Encephalopathy, Early Infantile, 24 Epileptic Encephalopathy, Early Infantile, 19
Epileptic Encephalopathy, Early Infantile, 51 Epileptic Encephalopathy, Early Infantile, 37
Epileptic Encephalopathy, Early Infantile, 5 Epileptic Encephalopathy, Early Infantile, 31
Epileptic Encephalopathy, Early Infantile, 4 Epileptic Encephalopathy, Early Infantile, 14
Epileptic Encephalopathy, Early Infantile, 3 Epileptic Encephalopathy, Early Infantile, 49
Epileptic Encephalopathy, Early Infantile, 41 Epileptic Encephalopathy, Early Infantile, 21
Epileptic Encephalopathy, Early Infantile, 27 Epileptic Encephalopathy, Early Infantile, 13
Epileptic Encephalopathy, Early Infantile, 43 Epileptic Encephalopathy, Early Infantile, 48
Epileptic Encephalopathy, Early Infantile, 16 Epileptic Encephalopathy, Early Infantile, 17
Epileptic Encephalopathy, Early Infantile, 29 Epileptic Encephalopathy, Early Infantile, 28
Epileptic Encephalopathy, Early Infantile, 25 Epileptic Encephalopathy, Early Infantile, 42
Epileptic Encephalopathy, Early Infantile, 52 Epileptic Encephalopathy, Early Infantile, 46
Epileptic Encephalopathy, Early Infantile, 12 Epileptic Encephalopathy, Early Infantile, 35
Epileptic Encephalopathy, Early Infantile, 34 Epileptic Encephalopathy, Early Infantile, 33
Epileptic Encephalopathy, Early Infantile, 26 Epileptic Encephalopathy, Early Infantile, 7
Epileptic Encephalopathy, Early Infantile, 55 Epileptic Encephalopathy, Early Infantile, 53
Epileptic Encephalopathy, Early Infantile, 30 Epileptic Encephalopathy, Early Infantile, 1
Epileptic Encephalopathy, Early Infantile, 2 Epileptic Encephalopathy, Early Infantile, 9
Epileptic Encephalopathy, Early Infantile, 8 Epileptic Encephalopathy, Early Infantile, 36

Diseases related to Epileptic Encephalopathy, Early Infantile, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 15 31.6 SLC25A22 STXBP1
2 eosinophilia-myalgia syndrome 11.9
3 erythema multiforme 11.7
4 stxbp1 encephalopathy with epilepsy 11.7
5 epileptic encephalopathy, early infantile, 3 11.4
6 epileptic encephalopathy, early infantile, 1 10.9
7 scn2a related disorders 10.8
8 epileptic encephalopathy, early infantile, 7 10.8
9 encephalopathy 10.2
10 infantile epileptic encephalopathy 10.1
11 epilepsy 10.0
12 early myoclonic encephalopathy 10.0
13 hemimegalencephaly 10.0
14 west syndrome 9.9
15 microcephaly 9.7
16 biotinidase deficiency 9.7
17 hypertonia 9.7
18 megalencephaly 9.7
19 cerebellar hypoplasia 9.7
20 congenital disorder of glycosylation, type im 9.6 SLC25A22 STXBP1
21 childhood electroclinical syndrome 9.6 SLC25A22 STXBP1
22 erythermalgia, primary 9.5 SLC25A22 STXBP1
23 fainting 9.5 SLC25A22 STXBP1
24 peyronie's disease 9.2 SLC25A22 STXBP1

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 4:



Diseases related to Epileptic Encephalopathy, Early Infantile, 4

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 4

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
hypotonia
tremor
thin corpus callosum
cerebral atrophy
seizures, absence
more
Head And Neck- Eyes:
poor visual pursuit


Clinical features from OMIM:

612164

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 4:

32 (show all 21)
id Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 intellectual disability, severe 32 HP:0010864
3 absent speech 32 HP:0001344
4 cerebral atrophy 32 HP:0002059
5 spastic paraplegia 32 HP:0001258
6 hypsarrhythmia 32 HP:0002521
7 epileptic encephalopathy 32 HP:0200134
8 hypoplasia of the corpus callosum 32 HP:0002079
9 spastic tetraplegia 32 HP:0002510
10 status epilepticus 32 HP:0002133
11 muscular hypotonia 32 HP:0001252
12 developmental regression 32 HP:0002376
13 generalized tonic-clonic seizures 32 HP:0002069
14 impaired horizontal smooth pursuit 32 HP:0001151
15 epileptic spasms 32 HP:0011097
16 infantile encephalopathy 32 HP:0007105
17 generalized myoclonic seizures 32 HP:0002123
18 severe global developmental delay 32 HP:0011344
19 generalized tonic seizures 32 HP:0010818
20 eeg with burst suppression 32 HP:0010851
21 cerebral hypomyelination 32 HP:0006808

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 4:


muscle spasticity, tremor, seizures, tonic

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 4

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 4

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 4

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 4:

id Genetic test Affiliating Genes
1 Epileptic Encephalopathy, Early Infantile, 4 24 STXBP1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 4:

39
Brain

Publications for Epileptic Encephalopathy, Early Infantile, 4

Variations for Epileptic Encephalopathy, Early Infantile, 4

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

71 (show all 18)
id Symbol AA change Variation ID SNP ID
1 STXBP1 p.Val84Asp VAR_046205 rs121918320
2 STXBP1 p.Cys180Tyr VAR_046206 rs121918318
3 STXBP1 p.Met443Arg VAR_046207 rs121918319
4 STXBP1 p.Gly544Asp VAR_046208 rs121918317
5 STXBP1 p.Glu283Lys VAR_071814 rs587777310
6 STXBP1 p.Asp285Tyr VAR_071815
7 STXBP1 p.His445Pro VAR_071816
8 STXBP1 p.Leu183Arg VAR_073149
9 STXBP1 p.Ala251Thr VAR_073150
10 STXBP1 p.Arg406His VAR_073151
11 STXBP1 p.Pro480Leu VAR_073153 rs796053368
12 STXBP1 p.Thr574Pro VAR_073154
13 STXBP1 p.Arg406Cys VAR_078218 rs796053367
14 STXBP1 p.Ser42Phe VAR_078631
15 STXBP1 p.Arg190Trp VAR_078633 rs796053355
16 STXBP1 p.Cys354Arg VAR_078634
17 STXBP1 p.Leu281Pro VAR_078758
18 STXBP1 p.Arg292His VAR_078759 rs796053361

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
2 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
3 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh37 Chromosome 9, 130444768: 130444768
4 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh37 Chromosome 9, 130425593: 130425593
5 STXBP1 NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh37 Chromosome 9, 130439001: 130439001
6 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh37 Chromosome 9, 130422313: 130422313
7 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
8 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh37 Chromosome 9, 130416076: 130416076
9 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
10 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
11 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh38 Chromosome 9, 127663208: 127663208
12 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
13 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
14 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
15 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
16 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
17 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
18 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
19 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh37 Chromosome 9, 130444788: 130444788
20 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
21 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
22 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
23 STXBP1 NM_003165.3(STXBP1): c.400_401delAA (p.Asn134Tyrfs) deletion Pathogenic rs886044141 GRCh37 Chromosome 9, 130423455: 130423456
24 STXBP1 NM_003165.3(STXBP1): c.902+1G> A single nucleotide variant Pathogenic rs886041978 GRCh37 Chromosome 9, 130430467: 130430467
25 STXBP1 NM_003165.3(STXBP1): c.1006C> T (p.Gln336Ter) single nucleotide variant Pathogenic rs1057519501 GRCh37 Chromosome 9, 130434372: 130434372
26 STXBP1 NM_001032221.3(STXBP1): c.87+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127651654: 127651654

Expression for Epileptic Encephalopathy, Early Infantile, 4

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 4.

Pathways for Epileptic Encephalopathy, Early Infantile, 4

GO Terms for Epileptic Encephalopathy, Early Infantile, 4

Cellular components related to Epileptic Encephalopathy, Early Infantile, 4 according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 8.62 SLC25A22 STXBP1

Sources for Epileptic Encephalopathy, Early Infantile, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....