EIEE4
MCID: EPL027
MIFTS: 44

Epileptic Encephalopathy, Early Infantile, 4 (EIEE4)

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, 4

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

Name: Epileptic Encephalopathy, Early Infantile, 4 56 73 13 71
Early Infantile Epileptic Encephalopathy 4 12 52 29 6 15
Eiee4 56 52 73
Early Myoclonic Encephalopathy 73 71
Encephalopathy, Epileptic, Early Infantile, Type 4 39
Neonatal Epilepsy with Suppression-Burst Pattern 73
Stxbp1-Related Early-Onset Encephalopathy 52
Stxbp1 Disorders 52
Eme 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0080436
OMIM 56 612164
OMIM Phenotypic Series 56 PS308350
MeSH 43 D013036
MedGen 41 C2677326
UMLS 71 C0270855 C2677326

Summaries for Epileptic Encephalopathy, Early Infantile, 4

NIH Rare Diseases : 52 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.

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

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1.

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.

More information from OMIM: 612164 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 4

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

(show top 50) (show all 430)
# Related Disease Score Top Affiliating Genes
1 early infantile epileptic encephalopathy 29.9 STXBP1 SLC9A7 SLC9A6
2 west syndrome 29.9 STXBP1 SLC9A7 SLC9A6
3 epileptic encephalopathy, early infantile, 6 29.6 STXBP1 SLC9A7
4 early myoclonic encephalopathy 12.9
5 erythema multiforme 12.4
6 eosinophilia-myalgia syndrome 12.2
7 epileptic encephalopathy, early infantile, 3 11.9
8 stxbp1 encephalopathy with epilepsy 11.6
9 pulmonary fibrosis, idiopathic 11.5
10 erythromelalgia 11.4
11 lyme disease 11.3
12 pulmonary embolism 11.3
13 encephalopathy, ethylmalonic 11.2
14 severe cutaneous adverse reaction 11.2
15 alpha-1-antitrypsin deficiency 11.2
16 encephalopathy 10.7
17 cardiac arrest 10.6
18 myoclonus 10.6
19 visual epilepsy 10.4
20 seizure disorder 10.4
21 ventricular fibrillation, paroxysmal familial, 1 10.3
22 glycine encephalopathy 10.3
23 ohtahara syndrome 10.3
24 helix syndrome 10.3
25 major affective disorder 8 10.2
26 major affective disorder 9 10.2
27 bipolar disorder 10.2
28 microcephaly 10.2
29 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.2
30 9q33.3q34.11 microdeletion syndrome 10.1 STXBP1 LMX1B
31 diarrhea 10.1
32 bipolar i disorder 10.1
33 substance abuse 10.1
34 hypereosinophilic syndrome 10.1
35 syncope 10.1
36 rapidly involuting congenital hemangioma 10.1
37 respiratory failure 10.1
38 nephrotic syndrome 10.1
39 hypotonia 10.1
40 acrocallosal syndrome 10.1
41 gastroenteritis 10.1
42 ischemia 10.1
43 kidney disease 10.1
44 herpes simplex 10.1
45 ataxia and polyneuropathy, adult-onset 10.0
46 chikungunya 10.0
47 exanthem 10.0
48 encephalitis 10.0
49 traumatic brain injury 10.0
50 pik3ca-related overgrowth syndrome 10.0

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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 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 generalized hypotonia 31 HP:0001290
6 generalized myoclonic seizures 31 HP:0002123
7 severe global developmental delay 31 HP:0011344
8 absent speech 31 HP:0001344
9 generalized tonic-clonic seizures 31 HP:0002069
10 generalized tonic seizures 31 HP:0010818
11 epileptic encephalopathy 31 HP:0200134
12 status epilepticus 31 HP:0002133
13 hypsarrhythmia 31 HP:0002521
14 hypoplasia of the corpus callosum 31 HP:0002079
15 spastic paraplegia 31 HP:0001258
16 cerebral atrophy 31 HP:0002059
17 epileptic spasms 31 HP:0011097
18 eeg with burst suppression 31 HP:0010851
19 cerebral hypomyelination 31 HP:0006808
20 infantile encephalopathy 31 HP:0007105
21 impaired horizontal smooth pursuit 31 HP:0001151

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
tremor
developmental regression
epileptic encephalopathy
status epilepticus
hypsarrhythmia
more
Head And Neck Eyes:
poor visual pursuit

Clinical features from OMIM:

612164

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


tremor, muscle spasticity, myoclonic seizures, absence seizures, tonic seizures

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:

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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

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

40
Brain, Bone, Kidney, Liver, Thyroid, Heart, Bone Marrow

Publications for Epileptic Encephalopathy, Early Infantile, 4

Articles related to Epileptic Encephalopathy, Early Infantile, 4:

(show all 13)
# Title Authors PMID Year
1
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 56 6
24623842 2014
2
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 56 6
19557857 2009
3
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 56 6
18469812 2008
4
STXBP1 Encephalopathy with Epilepsy 6
27905812 2016
5
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 6
23339110 2013
6
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. 56
22211739 2012
7
Paternal mosaicism of an STXBP1 mutation in OS. 56
21062273 2011
8
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 56
20876469 2010
9
Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. 56
20493457 2010
10
Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 56
18065176 2008
11
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 6
18487195 2008
12
STXBP1 encephalopathy is associated with awake bruxism. 61
30654231 2019
13
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 Epileptic Encephalopathy, Early Infantile, 4

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

6 (show top 50) (show all 57) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STXBP1 NM_001032221.4(STXBP1):c.754_755del (p.Met252fs)deletion Pathogenic 160071 rs587784454 9:130428534-130428535 9:127666255-127666256
2 STXBP1 NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp)SNV Pathogenic 207417 rs796053355 9:130425622-130425622 9:127663343-127663343
3 STXBP1 NM_003165.4(STXBP1):c.703C>T (p.Arg235Ter)SNV Pathogenic 207422 rs796053359 9:130428484-130428484 9:127666205-127666205
4 STXBP1 NM_003165.4(STXBP1):c.875G>A (p.Arg292His)SNV Pathogenic 207424 rs796053361 9:130430439-130430439 9:127668160-127668160
5 STXBP1 NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu)SNV Pathogenic 207432 rs796053368 9:130440789-130440789 9:127678510-127678510
6 STXBP1 NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys)SNV Pathogenic 207440 rs796053373 9:130444788-130444788 9:127682509-127682509
7 STXBP1 NM_003165.4(STXBP1):c.1029+1G>CSNV Pathogenic 212326 rs727504173 9:130434396-130434396 9:127672117-127672117
8 STXBP1 NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp)SNV Pathogenic 6726 rs121918317 9:130444768-130444768 9:127682489-127682489
9 STXBP1 NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr)SNV Pathogenic 6727 rs121918318 9:130425593-130425593 9:127663314-127663314
10 STXBP1 NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg)SNV Pathogenic 6728 rs121918319 9:130439001-130439001 9:127676722-127676722
11 STXBP1 NM_003165.4(STXBP1):c.251T>A (p.Val84Asp)SNV Pathogenic 6729 rs121918320 9:130422313-130422313 9:127660034-127660034
12 STXBP1 NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter)SNV Pathogenic 6730 rs121918321 9:130438134-130438134 9:127675855-127675855
13 STXBP1 NM_003165.4(STXBP1):c.169+1G>ASNV Pathogenic 6731 rs587776641 9:130416076-130416076 9:127653797-127653797
14 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter)SNV Pathogenic 198157 rs794727792 9:130423419-130423419 9:127661140-127661140
15 STXBP1 NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln)SNV Pathogenic 199083 rs794727970 9:130428485-130428485 9:127666206-127666206
16 STXBP1 NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys)SNV Pathogenic 127076 rs587777310 9:130430411-130430411 9:127668132-127668132
17 STXBP1 NM_003165.4(STXBP1):c.1217G>A (p.Arg406His)SNV Pathogenic 279904 rs886041246 9:130438189-130438189 9:127675910-127675910
18 STXBP1 NM_003165.4(STXBP1):c.902+1G>ASNV Pathogenic 375214 rs886041978 9:130430467-130430467 9:127668188-127668188
19 STXBP1 NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter)SNV Pathogenic 375464 rs1057519501 9:130434372-130434372 9:127672093-127672093
20 STXBP1 NM_001032221.4(STXBP1):c.87+2T>CSNV Pathogenic 436894 rs1554775960 9:130413933-130413933 9:127651654-127651654
21 STXBP1 NM_003165.4(STXBP1):c.170-2A>GSNV Pathogenic 488800 rs1554776674 9:130420652-130420652 9:127658373-127658373
22 STXBP1 NM_003165.4(STXBP1):c.1756G>A (p.Asp586Asn)SNV Pathogenic 522917 rs746172968 9:130446700-130446700 9:127684421-127684421
23 STXBP1 NM_003165.4(STXBP1):c.692dup (p.Ile232fs)duplication Pathogenic 560298 rs1564351388 9:130428472-130428473 9:127666193-127666194
24 STXBP1 NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter)SNV Pathogenic 561120 rs1564346538 9:130413923-130413923 9:127651644-127651644
25 STXBP1 NM_003165.4(STXBP1):c.578+1G>ASNV Pathogenic 561119 rs796053357 9:130425633-130425633 9:127663354-127663354
26 STXBP1 NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter)SNV Pathogenic 590289 rs1564357089 9:130444694-130444694 9:127682415-127682415
27 STXBP1 deletion Pathogenic 598748 9:130248090-130388197
28 STXBP1 NM_001032221.6(STXBP1):c.1492dup (p.His498fs)duplication Pathogenic 620007 rs1564356269 9:130442465-130442466 9:127680186-127680187
29 CFAP157 , NIBAN2 , PTRH1 , SH2D3C , STXBP1 , TOR2A , TTC16 GRCh37/hg19 9q34.11(chr9:130335766-130517907)copy number loss Pathogenic 625638 9:130335766-130517907
30 LMX1B GRCh37/hg19 9q33.3(chr9:129414011-129460757)copy number loss Pathogenic 625639 9:129414011-129460757
31 STXBP1 NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)SNV Pathogenic 802508 9:130420725-130420725 9:127658446-127658446
32 STXBP1 NM_001032221.6(STXBP1):c.430-1G>ASNV Pathogenic 802511 9:130425483-130425483 9:127663204-127663204
33 STXBP1 NM_001032221.6(STXBP1):c.579-1G>ASNV Pathogenic 802512 9:130427525-130427525 9:127665246-127665246
34 STXBP1 NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)deletion Pathogenic 802514 9:130438208-130438208 9:127675929-127675929
35 STXBP1 NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter)SNV Pathogenic 807506 9:130438934-130438934 9:127676655-127676655
36 STXBP1 NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu)SNV Pathogenic/Likely pathogenic 207415 rs796053353 9:130423471-130423471 9:127661192-127661192
37 STXBP1 NM_003165.4(STXBP1):c.1651C>A (p.Arg551Ser)SNV Pathogenic/Likely pathogenic 207439 rs796053373 9:130444788-130444788 9:127682509-127682509
38 STXBP1 NM_003165.4(STXBP1):c.433T>C (p.Tyr145His)SNV Likely pathogenic 160073 rs587784455 9:130425487-130425487 9:127663208-127663208
39 STXBP1 NM_003165.4(STXBP1):c.1111-2A>GSNV Likely pathogenic 461286 rs1554778417 9:130438081-130438081 9:127675802-127675802
40 STXBP1 NM_003165.4(STXBP1):c.791A>G (p.Tyr264Cys)SNV Likely pathogenic 495059 rs1316686443 9:130428572-130428572 9:127666293-127666293
41 STXBP1 NM_003165.3(STXBP1):c.325+2_325+3deldeletion Likely pathogenic 496686 rs1554776853 9:130422389-130422390 9:127660108-127660109
42 STXBP1 NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)SNV Likely pathogenic 807505 9:130422370-130422370 9:127660091-127660091
43 STXBP1 NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)SNV Likely pathogenic 802513 9:130430426-130430426 9:127668147-127668147
44 STXBP1 NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)deletion Likely pathogenic 802509 9:130422363-130422365 9:127660084-127660086
45 STXBP1 NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)SNV Likely pathogenic 802507 9:130420720-130420720 9:127658441-127658441
46 STXBP1 NM_003165.4(STXBP1):c.1680C>T (p.Asn560=)SNV Conflicting interpretations of pathogenicity 139355 rs201809337 9:130444817-130444817 9:127682538-127682538
47 STXBP1 NM_003165.4(STXBP1):c.1702+10C>TSNV Conflicting interpretations of pathogenicity 139356 rs147607230 9:130444849-130444849 9:127682570-127682570
48 STXBP1 NM_003165.4(STXBP1):c.734A>G (p.His245Arg)SNV Conflicting interpretations of pathogenicity 160070 rs587784453 9:130428515-130428515 9:127666236-127666236
49 STXBP1 NM_003165.4(STXBP1):c.874C>T (p.Arg292Cys)SNV Conflicting interpretations of pathogenicity 191238 rs786205598 9:130430438-130430438 9:127668159-127668159
50 STXBP1 NM_003165.4(STXBP1):c.714C>A (p.Asp238Glu)SNV Uncertain significance 160074 rs587784456 9:130428495-130428495 9:127666216-127666216

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

# Name GO ID Score Top Affiliating Genes
1 recycling endosome membrane GO:0055038 8.96 SLC9A7 SLC9A6
2 intracellular membrane-bounded organelle GO:0043231 8.92 SLC9A7 SLC9A6 RANGAP1 GARNL3

Biological processes related to Epileptic Encephalopathy, Early Infantile, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transport GO:1902600 9.4 SLC9A7 SLC9A6
2 sodium ion transmembrane transport GO:0035725 9.37 SLC9A7 SLC9A6
3 cation transport GO:0006812 9.32 SLC9A7 SLC9A6
4 anion transmembrane transport GO:0098656 9.26 SLC9A7 SLC9A6
5 regulation of intracellular pH GO:0051453 9.16 SLC9A7 SLC9A6
6 regulation of pH GO:0006885 8.96 SLC9A7 SLC9A6
7 sodium ion import across plasma membrane GO:0098719 8.62 SLC9A7 SLC9A6

Molecular functions related to Epileptic Encephalopathy, Early Infantile, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.26 SLC9A7 SLC9A6
2 solute:proton antiporter activity GO:0015299 9.16 SLC9A7 SLC9A6
3 sodium:proton antiporter activity GO:0015385 8.96 SLC9A7 SLC9A6
4 potassium:proton antiporter activity GO:0015386 8.62 SLC9A7 SLC9A6

Sources for Epileptic Encephalopathy, Early Infantile, 4

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
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
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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