DEE4
MCID: DVL035
MIFTS: 39

Developmental and Epileptic Encephalopathy 4 (DEE4)

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 4

MalaCards integrated aliases for Developmental and Epileptic Encephalopathy 4:

Name: Developmental and Epileptic Encephalopathy 4 57 12
Early Infantile Epileptic Encephalopathy 4 12 20 29 6 15
Epileptic Encephalopathy, Early Infantile, 4 57 73 13
Eiee4 57 20 73
Dee4 57 12
Epileptic Encephalopathy, Early Infantile, 4; Eiee4 57
Encephalopathy, Epileptic, Early Infantile, Type 4 39
Neonatal Epilepsy with Suppression-Burst Pattern 73
Stxbp1-Related Early-Onset Encephalopathy 20
Early Myoclonic Encephalopathy 73
Stxbp1 Disorders 20
Eme 73

Characteristics:

OMIM®:

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

Miscellaneous:
variable severity
de novo mutation
onset in neonatal period or infancy
seizures are usually intractable
seizures may be fever-sensitive


HPO:

31
developmental and epileptic encephalopathy 4:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity neonatal onset


Classifications:



Summaries for Developmental and Epileptic Encephalopathy 4

OMIM® : 57 Developmental and epileptic encephalopathy-4 (DEE4) is a neurologic disorder characterized by the onset of tonic seizures in early infancy (usually in first months of life). In most cases, seizures increase in frequency and become refractory. Affected individuals have profoundly impaired psychomotor development with poor head control, limited or no ability to walk, spastic quadriplegia, and poor or absent speech. Brain imaging may show cortical atrophy and hypomyelination. EEG studies in the more severe cases show a burst-suppression pattern, consistent with a clinical diagnosis of Ohtahara syndrome, and/or hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Less severely affected individuals have later onset of seizures (summary by Saitsu et al., 2008; Hamdan et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of developmental and epileptic encephalopathy, see 308350. (612164) (Updated 05-Mar-2021)

MalaCards based summary : Developmental and Epileptic Encephalopathy 4, also known as early infantile epileptic encephalopathy 4, is related to early myoclonic encephalopathy and stxbp1 encephalopathy, and has symptoms including tremor, myoclonic seizures and absence seizures. An important gene associated with Developmental and Epileptic Encephalopathy 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain, and related phenotypes are tremor and developmental regression

Disease Ontology : 12 A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has material basis in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

GARD : 20 Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy, which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures, although other seizure types have been reported. Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. EIEE4 is caused by changes (mutations) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition.

UniProtKB/Swiss-Prot : 73 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.

Related Diseases for Developmental and Epileptic Encephalopathy 4

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 32.6 STXBP1 SLC25A22 CDKL5
2 stxbp1 encephalopathy 31.5 STXBP1 SH2D3C LRSAM1 LMX1B GARNL3 CFAP157
3 encephalopathy 31.1 STXBP1 SLC25A22 CDKL5
4 lennox-gastaut syndrome 29.9 STXBP1 SLC25A22 CDKL5
5 early infantile epileptic encephalopathy 29.7 STXBP1 SLC25A22 SH2D3C LRSAM1 LMX1B GARNL3
6 dravet syndrome 29.0 STXBP1 SLC25A22 SH2D3C LRSAM1 LMX1B GARNL3
7 stxbp1 encephalopathy with epilepsy 11.4
8 developmental and epileptic encephalopathy 3 11.3
9 developmental and epileptic encephalopathy 30 11.1
10 encephalopathy, ethylmalonic 10.9
11 myoclonus 10.6
12 west syndrome 10.4
13 seizure disorder 10.4
14 ohtahara syndrome 10.3
15 glycine encephalopathy 10.3
16 9q33.3q34.11 microdeletion syndrome 10.3 STXBP1 LMX1B
17 propionic acidemia 10.3
18 microcephaly 10.2
19 developmental and epileptic encephalopathy 9 10.2 STXBP1 CDKL5
20 childhood electroclinical syndrome 10.1 STXBP1 CDKL5
21 respiratory failure 10.1
22 nephrotic syndrome 10.1
23 hypotonia 10.1
24 benign familial neonatal epilepsy 10.1 STXBP1 CDKL5
25 pyogenic sterile arthritis, pyoderma gangrenosum, and acne 10.0 SIGLEC5 FCHO2
26 fibrosis of extraocular muscles, congenital, 1 10.0
27 pulmonary fibrosis, idiopathic 10.0
28 diarrhea 10.0
29 interstitial lung disease 10.0
30 pulmonary fibrosis 10.0
31 lung disease 10.0
32 infancy electroclinical syndrome 10.0 STXBP1 SLC25A22 CDKL5
33 electroclinical syndrome 10.0 STXBP1 SLC25A22 CDKL5
34 benign neonatal seizures 10.0 STXBP1 SLC25A22 CDKL5
35 bruxism 10.0 STXBP1 CDKL5
36 neonatal period electroclinical syndrome 10.0 STXBP1 SLC25A22 CDKL5
37 biotinidase deficiency 10.0
38 spinal muscular atrophy, type i 10.0
39 ocular motor apraxia 10.0
40 senior-loken syndrome 1 10.0
41 schinzel-giedion midface retraction syndrome 10.0
42 multiple congenital anomalies-hypotonia-seizures syndrome 2 10.0
43 pontocerebellar hypoplasia, type 6 10.0
44 epileptic encephalopathy, infantile or early childhood, 2 10.0
45 metabolic acidosis 10.0
46 pontocerebellar hypoplasia 10.0
47 cerebellar hypoplasia 10.0
48 developmental and epileptic encephalopathy 10.0
49 disseminated intravascular coagulation 10.0
50 spinal muscular atrophy 10.0

Graphical network of the top 20 diseases related to Developmental and Epileptic Encephalopathy 4:



Diseases related to Developmental and Epileptic Encephalopathy 4

Symptoms & Phenotypes for Developmental and Epileptic Encephalopathy 4

Human phenotypes related to Developmental and Epileptic Encephalopathy 4:

31 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 31 HP:0001337
2 developmental regression 31 HP:0002376
3 spastic tetraplegia 31 HP:0002510
4 intellectual disability, severe 31 HP:0010864
5 absent speech 31 HP:0001344
6 severe global developmental delay 31 HP:0011344
7 spastic paraplegia 31 HP:0001258
8 hypoplasia of the corpus callosum 31 HP:0002079
9 status epilepticus 31 HP:0002133
10 cerebral atrophy 31 HP:0002059
11 generalized hypotonia 31 HP:0001290
12 hypsarrhythmia 31 HP:0002521
13 epileptic encephalopathy 31 HP:0200134
14 cerebral hypomyelination 31 HP:0006808
15 eeg with burst suppression 31 HP:0010851
16 impaired horizontal smooth pursuit 31 HP:0001151
17 infantile encephalopathy 31 HP:0007105
18 bilateral tonic-clonic seizure 31 HP:0002069
19 generalized tonic seizure 31 HP:0010818
20 generalized myoclonic seizure 31 HP:0002123
21 epileptic spasm 31 HP:0011097

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
tremor
developmental regression
spastic paraplegia
status epilepticus
cerebral atrophy
more
Head And Neck Eyes:
poor visual pursuit

Clinical features from OMIM®:

612164 (Updated 05-Mar-2021)

UMLS symptoms related to Developmental and Epileptic Encephalopathy 4:


tremor, myoclonic seizures, absence seizures, tonic seizures

Drugs & Therapeutics for Developmental and Epileptic Encephalopathy 4

Search Clinical Trials , NIH Clinical Center for Developmental and Epileptic Encephalopathy 4

Genetic Tests for Developmental and Epileptic Encephalopathy 4

Genetic tests related to Developmental and Epileptic Encephalopathy 4:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 4 29 STXBP1

Anatomical Context for Developmental and Epileptic Encephalopathy 4

MalaCards organs/tissues related to Developmental and Epileptic Encephalopathy 4:

40
Brain

Publications for Developmental and Epileptic Encephalopathy 4

Articles related to Developmental and Epileptic Encephalopathy 4:

# Title Authors PMID Year
1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6 57
24623842 2014
2
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 57 6
19557857 2009
3
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 6 57
18469812 2008
4
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. 57
22211739 2012
5
Paternal mosaicism of an STXBP1 mutation in OS. 57
21062273 2011
6
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 57
20876469 2010
7
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 57
20493457 2010
8
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 57
18065176 2008
9
STXBP1 encephalopathy is associated with awake bruxism. 61
30654231 2019
10
Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene? 61
26421060 2015

Variations for Developmental and Epileptic Encephalopathy 4

ClinVar genetic disease variations for Developmental and Epileptic Encephalopathy 4:

6 (show top 50) (show all 90)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_003165.4(STXBP1):c.1029+1G>C SNV Pathogenic 212326 rs727504173 9:130434396-130434396 9:127672117-127672117
2 STXBP1 NM_003165.4(STXBP1):c.902+1G>A SNV Pathogenic 375214 rs886041978 9:130430467-130430467 9:127668188-127668188
3 STXBP1 NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) SNV Pathogenic 375464 rs1057519501 9:130434372-130434372 9:127672093-127672093
4 STXBP1 NM_001032221.4(STXBP1):c.87+2T>C SNV Pathogenic 436894 rs1554775960 9:130413933-130413933 9:127651654-127651654
5 STXBP1 NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) SNV Pathogenic 6726 rs121918317 9:130444768-130444768 9:127682489-127682489
6 STXBP1 NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) SNV Pathogenic 6727 rs121918318 9:130425593-130425593 9:127663314-127663314
7 STXBP1 NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) SNV Pathogenic 6728 rs121918319 9:130439001-130439001 9:127676722-127676722
8 STXBP1 NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) SNV Pathogenic 6729 rs121918320 9:130422313-130422313 9:127660034-127660034
9 STXBP1 NM_003165.4(STXBP1):c.169+1G>A SNV Pathogenic 6731 rs587776641 9:130416076-130416076 9:127653797-127653797
10 STXBP1 NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) SNV Pathogenic 127076 rs587777310 9:130430411-130430411 9:127668132-127668132
11 STXBP1 NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) Deletion Pathogenic 160071 rs587784454 9:130428534-130428535 9:127666255-127666256
12 STXBP1 NM_003165.4(STXBP1):c.578+1G>A SNV Pathogenic 561119 rs796053357 9:130425633-130425633 9:127663354-127663354
13 STXBP1 NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) SNV Pathogenic 561120 rs1564346538 9:130413923-130413923 9:127651644-127651644
14 STXBP1 NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) SNV Pathogenic 590289 rs1564357089 9:130444694-130444694 9:127682415-127682415
15 LRSAM1 Deletion Pathogenic 598748 9:130248090-130388197
16 STXBP1 NM_001032221.6(STXBP1):c.1492dup (p.His498fs) Duplication Pathogenic 620007 rs1564356269 9:130442465-130442466 9:127680186-127680187
17 SH2D3C GRCh37/hg19 9q34.11(chr9:130335766-130517907) copy number loss Pathogenic 625638 9:130335766-130517907
18 LMX1B GRCh37/hg19 9q33.3(chr9:129414011-129460757) copy number loss Pathogenic 625639 9:129414011-129460757
19 STXBP1 NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) SNV Pathogenic 807506 rs1588341629 9:130438934-130438934 9:127676655-127676655
20 STXBP1 NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) SNV Pathogenic 812664 rs1564355614 9:130440777-130440777 9:127678498-127678498
21 CDKL5 NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) SNV Pathogenic 813743 rs1602286005 X:18622143-18622143 X:18604023-18604023
22 STXBP1 NM_001032221.6(STXBP1):c.246+2_325+14del Deletion Pathogenic 827636 9:130420732-130422401 9:127658453-127660122
23 STXBP1 NM_003165.4(STXBP1):c.326-1G>T SNV Pathogenic 461293 rs1554776948 9:130423380-130423380 9:127661101-127661101
24 STXBP1 NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) Deletion Pathogenic 812177 9:130435460-130435460 9:127673181-127673181
25 STXBP1 NM_003165.4(STXBP1):c.1427C>G (p.Ser476Ter) SNV Pathogenic 620472 rs1564355614 9:130440777-130440777 9:127678498-127678498
26 STXBP1 NM_001032221.6(STXBP1):c.663+1G>A SNV Pathogenic 973279 9:130427611-130427611 9:127665332-127665332
27 CFAP157 GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1 copy number loss Pathogenic 932281 9:130435492-130485618
28 STXBP1 NM_001032221.6(STXBP1):c.1029+1G>A SNV Pathogenic 870915 9:130434396-130434396 9:127672117-127672117
29 STXBP1 NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) Deletion Pathogenic 976064 9:130423428-130423429 9:127661149-127661150
30 STXBP1 NM_003165.4(STXBP1):c.1381_1390del (p.Lys461fs) Deletion Pathogenic 449337 rs1554778657 9:130440723-130440732 9:127678444-127678453
31 STXBP1 NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) SNV Pathogenic 802508 rs1461664423 9:130420725-130420725 9:127658446-127658446
32 STXBP1 NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) SNV Pathogenic 982594 9:130444767-130444767 9:127682488-127682488
33 STXBP1 NM_003165.4(STXBP1):c.1652G>A (p.Arg551His) SNV Pathogenic 566474 rs796053374 9:130444789-130444789 9:127682510-127682510
34 STXBP1 NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) SNV Pathogenic 199083 rs794727970 9:130428485-130428485 9:127666206-127666206
35 STXBP1 NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys) SNV Pathogenic 191238 rs786205598 9:130430438-130430438 9:127668159-127668159
36 GARNL3 GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Pathogenic 983307 9:128512347-130702572
37 STXBP1 NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6730 rs121918321 9:130438134-130438134 9:127675855-127675855
38 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140
39 STXBP1 NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) SNV Pathogenic 207417 9:130425622-130425622 9:127663343-127663343
40 STXBP1 NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 207432 rs796053368 9:130440789-130440789 9:127678510-127678510
41 STXBP1 NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) Microsatellite Pathogenic 419724 9:130422316-130422317 9:127660037-127660038
42 STXBP1 NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) Duplication Pathogenic 973268 9:130440722-130440723 9:127678443-127678444
43 STXBP1 NM_003165.4(STXBP1):c.1702+1G>A SNV Pathogenic 207444 rs796053377 9:130444840-130444840 9:127682561-127682561
44 STXBP1 NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) SNV Pathogenic 870202 9:130444725-130444725 9:127682446-127682446
45 STXBP1 NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) Deletion Pathogenic 802514 rs1588339898 9:130438208-130438208 9:127675929-127675929
46 STXBP1 NM_001032221.6(STXBP1):c.579-1G>A SNV Pathogenic 802512 rs1588317190 9:130427525-130427525 9:127665246-127665246
47 STXBP1 NM_001032221.6(STXBP1):c.430-1G>A SNV Pathogenic 802511 rs796053354 9:130425483-130425483 9:127663204-127663204
48 STXBP1 NM_001032221.6(STXBP1):c.1111-2A>G SNV Pathogenic 461286 rs1554778417 9:130438081-130438081 9:127675802-127675802
49 STXBP1 NM_003165.4(STXBP1):c.692dup (p.Ile232fs) Duplication Pathogenic 560298 rs1564351388 9:130428472-130428473 9:127666193-127666194
50 STXBP1 NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) SNV Pathogenic 207440 rs796053373 9:130444788-130444788 9:127682509-127682509

UniProtKB/Swiss-Prot genetic disease variations for Developmental and Epileptic Encephalopathy 4:

73 (show all 18)
# 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 rs886041246
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 rs886041337
17 STXBP1 p.Leu281Pro VAR_078758
18 STXBP1 p.Arg292His VAR_078759 rs796053361

Expression for Developmental and Epileptic Encephalopathy 4

Search GEO for disease gene expression data for Developmental and Epileptic Encephalopathy 4.

Pathways for Developmental and Epileptic Encephalopathy 4

GO Terms for Developmental and Epileptic Encephalopathy 4

Biological processes related to Developmental and Epileptic Encephalopathy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of exocytosis GO:0045921 8.96 STXBP5 STXBP1
2 regulation of synaptic vesicle priming GO:0010807 8.62 STXBP5 STXBP1

Molecular functions related to Developmental and Epileptic Encephalopathy 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 syntaxin-1 binding GO:0017075 8.62 STXBP5 STXBP1

Sources for Developmental and Epileptic Encephalopathy 4

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
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