DEE4
MCID: STX005
MIFTS: 23

Stxbp1 Encephalopathy (DEE4)

Categories: Neuronal diseases

Aliases & Classifications for Stxbp1 Encephalopathy

MalaCards integrated aliases for Stxbp1 Encephalopathy:

Name: Stxbp1 Encephalopathy 43
Stxbp1-Related Epileptic Encephalopathy 43 6
Stxbp1-Related Developmental and Epileptic Encephalopathy 43
Developmental and Epileptic Encephalopathy, Type 4 43
Developmental and Epileptic Encephalopathy 4 43
Early-Infantile Epileptic Encephalopathy 4 43
Stxbp1-Related Early-Onset Encephalopathy 43
Stxbp1 Encephalopathy with Epilepsy 43
Stxbp1 Epileptic Encephalopathy 43
Eiee4 43
Dee4 43

Classifications:



Summaries for Stxbp1 Encephalopathy

MedlinePlus Genetics : 43 STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin in infancy but can start later in childhood or early adulthood. In many affected individuals who have epilepsy, the seizures stop after a few years, and the other neurological problems continue throughout life. However, some people with STXBP1 encephalopathy have seizures that persist.In people with STXBP1 encephalopathy, intellectual disability is often severe to profound. In addition, speech and motor skills, such as sitting, crawling, and walking, can be delayed. Though they may acquire the skill late, many children with the condition can walk independently by age 5. Affected individuals usually learn their first words later than their peers, sometimes not until late childhood. Some can communicate verbally using simple sentences, while others never develop the skill.  About 85 percent of people with STXBP1 encephalopathy develop epilepsy. The most common seizures in this condition are infantile spasms, which occur before age 1 and consist of involuntary muscle contractions. Other seizure types that can occur in people with this condition include uncontrolled muscle twitches (myoclonic seizures), sudden episodes of weak muscle tone (atonic seizures), partial or complete loss of consciousness (absence seizures), or loss of consciousness with muscle rigidity and convulsions (tonic-clonic seizures). Most people who have STXBP1 encephalopathy have more than one type of seizure. In about one-quarter of affected individuals, the seizures are described as refractory because they do not respond to therapy with anti-epileptic medications.Other neurological problems that occur in people with STXBP1 encephalopathy include features of autism spectrum disorder; weak muscle tone (hypotonia); and movement problems, such as difficulty coordinating movements (ataxia), involuntary trembling (tremors), and muscle stiffness (spasticity). In some cases, areas of brain tissue loss (atrophy) have been found on medical imaging.

MalaCards based summary : Stxbp1 Encephalopathy, also known as stxbp1-related epileptic encephalopathy, is related to encephalopathy and west syndrome. An important gene associated with Stxbp1 Encephalopathy is STXBP1 (Syntaxin Binding Protein 1). Related phenotypes are no phenotypic analysis and taste/olfaction

Related Diseases for Stxbp1 Encephalopathy

Diseases related to Stxbp1 Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 encephalopathy 30.4 STXBP1 CDKL5
2 west syndrome 29.8 STXBP1 CDKL5
3 seizure disorder 29.6 STXBP1 CDKL5
4 early infantile epileptic encephalopathy 29.6 STXBP1 LMX1B CDKL5
5 bruxism 29.6 STXBP1 CDKL5
6 developmental and epileptic encephalopathy 4 29.5 STXBP1 LMX1B CDKL5
7 dravet syndrome 29.5 STXBP1 LMX1B CDKL5
8 lennox-gastaut syndrome 29.5 STXBP1 CDKL5
9 early myoclonic encephalopathy 29.5 STXBP1 CDKL5
10 rett syndrome 29.5 STXBP1 CDKL5
11 stxbp1 encephalopathy with epilepsy 11.2
12 alacrima, achalasia, and mental retardation syndrome 10.3
13 movement disease 10.3
14 ohtahara syndrome 10.3
15 developmental and epileptic encephalopathy 10.2
16 ehlers-danlos syndrome 10.2
17 status epilepticus 10.2
18 connective tissue disease 10.2
19 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.1
20 autism spectrum disorder 10.1
21 epilepsy 10.1
22 dystonia 10.1
23 parkinson disease, late-onset 10.0
24 ataxia and polyneuropathy, adult-onset 10.0
25 developmental and epileptic encephalopathy 3 10.0
26 muscle hypertrophy 10.0
27 parkinsonism 10.0
28 tremor 10.0
29 non-specific syndromic intellectual disability 10.0
30 infantile epilepsy syndrome 10.0
31 9q33.3q34.11 microdeletion syndrome 9.9 STXBP1 LMX1B
32 developmental and epileptic encephalopathy 9 9.8 STXBP1 CDKL5
33 infancy electroclinical syndrome 9.8 STXBP1 CDKL5
34 benign familial neonatal epilepsy 9.8 STXBP1 CDKL5
35 benign neonatal seizures 9.8 STXBP1 CDKL5
36 childhood electroclinical syndrome 9.8 STXBP1 CDKL5
37 neonatal period electroclinical syndrome 9.7 STXBP1 CDKL5
38 pitt-hopkins syndrome 9.7 STXBP1 CDKL5
39 benign familial infantile epilepsy 9.7 STXBP1 CDKL5
40 developmental and epileptic encephalopathy 1 9.7 STXBP1 CDKL5
41 epilepsy, myoclonic juvenile 9.7 STXBP1 CDKL5
42 generalized epilepsy with febrile seizures plus 9.7 STXBP1 CDKL5
43 epilepsy, idiopathic generalized 9.7 STXBP1 CDKL5
44 childhood absence epilepsy 9.7 STXBP1 CDKL5
45 benign epilepsy with centrotemporal spikes 9.6 STXBP1 CDKL5
46 disease of mental health 9.1 STXBP1 LMX1B CDKL5

Graphical network of the top 20 diseases related to Stxbp1 Encephalopathy:



Diseases related to Stxbp1 Encephalopathy

Symptoms & Phenotypes for Stxbp1 Encephalopathy

MGI Mouse Phenotypes related to Stxbp1 Encephalopathy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 9.13 CDKL5 LMX1B STXBP1
2 taste/olfaction MP:0005394 8.62 CDKL5 LMX1B

Drugs & Therapeutics for Stxbp1 Encephalopathy

Search Clinical Trials , NIH Clinical Center for Stxbp1 Encephalopathy

Genetic Tests for Stxbp1 Encephalopathy

Anatomical Context for Stxbp1 Encephalopathy

Publications for Stxbp1 Encephalopathy

Articles related to Stxbp1 Encephalopathy:

(show all 42)
# Title Authors PMID Year
1
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 6 61
26384463 2016
2
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 6 61
26865513 2016
3
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 6 61
23409955 2013
4
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
5
Prevalence and architecture of de novo mutations in developmental disorders. 6
28135719 2017
6
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
7
Whole exome sequencing in patients with white matter abnormalities. 6
27159321 2016
8
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
9
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. 6
27069701 2016
10
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 6
26514728 2015
11
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 6
25818041 2015
12
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 6
25714420 2015
13
Large-scale discovery of novel genetic causes of developmental disorders. 6
25533962 2015
14
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. 6
25497044 2015
15
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 6
25418441 2015
16
The genetic landscape of infantile spasms. 6
24781210 2014
17
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 6
24623842 2014
18
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. 6
24315539 2014
19
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? 6
24189369 2014
20
De novo mutations in epileptic encephalopathies. 6
23934111 2013
21
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 6
23662938 2013
22
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 6
22612257 2012
23
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 6
21770924 2011
24
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 6
21762454 2011
25
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 6
20887364 2010
26
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 6
19557857 2009
27
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 6
18469812 2008
28
Benefits of ketogenic diet in a pediatric patient with Ehlers-Danlos syndrome and STXBP1-related epileptic encephalopathy. 61
33272087 2020
29
[Clinical and genetic characteristics of children with STXBP1 encephalopathy]. 61
32521962 2020
30
Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy. 61
32073399 2020
31
Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission. 61
31855252 2020
32
Neonatal Developmental and Epileptic Encephalopathies. 61
31813518 2019
33
Generation of three induced pluripotent stem cell lines from postmortem tissue derived following sudden death of a young patient with STXBP1 mutation. 61
31255830 2019
34
STXBP1 encephalopathy: Connecting neurodevelopmental disorders with α-synucleinopathies? 61
31221716 2019
35
STXBP1 encephalopathy is associated with awake bruxism. 61
30654231 2019
36
Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation. 61
32105008 2019
37
Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy. 61
29538625 2018
38
Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review. 61
29718889 2018
39
STXBP1 as a therapeutic target for epileptic encephalopathy. 61
28971703 2017
40
STXBP1 Encephalopathy with Epilepsy 61
27905812 2016
41
Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy. 61
26918652 2016
42
Head stereotypies in STXBP1 encephalopathy. 61
23763664 2013

Variations for Stxbp1 Encephalopathy

ClinVar genetic disease variations for Stxbp1 Encephalopathy:

6 (show top 50) (show all 94)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STXBP1 NM_003165.4(STXBP1):c.1631G>A (p.Gly544Asp) SNV Pathogenic 6726 rs121918317 GRCh37: 9:130444768-130444768
GRCh38: 9:127682489-127682489
2 STXBP1 NM_003165.4(STXBP1):c.539G>A (p.Cys180Tyr) SNV Pathogenic 6727 rs121918318 GRCh37: 9:130425593-130425593
GRCh38: 9:127663314-127663314
3 STXBP1 NM_003165.4(STXBP1):c.1328T>G (p.Met443Arg) SNV Pathogenic 6728 rs121918319 GRCh37: 9:130439001-130439001
GRCh38: 9:127676722-127676722
4 STXBP1 NM_003165.4(STXBP1):c.251T>A (p.Val84Asp) SNV Pathogenic 6729 rs121918320 GRCh37: 9:130422313-130422313
GRCh38: 9:127660034-127660034
5 STXBP1 NM_003165.4(STXBP1):c.169+1G>A SNV Pathogenic 6731 rs587776641 GRCh37: 9:130416076-130416076
GRCh38: 9:127653797-127653797
6 STXBP1 NM_001032221.4(STXBP1):c.754_755del (p.Met252fs) Deletion Pathogenic 160071 rs587784454 GRCh37: 9:130428534-130428535
GRCh38: 9:127666255-127666256
7 STXBP1 NM_003165.4(STXBP1):c.578+1G>A SNV Pathogenic 561119 rs796053357 GRCh37: 9:130425633-130425633
GRCh38: 9:127663354-127663354
8 STXBP1 NM_003165.4(STXBP1):c.79G>T (p.Glu27Ter) SNV Pathogenic 561120 rs1564346538 GRCh37: 9:130413923-130413923
GRCh38: 9:127651644-127651644
9 STXBP1 NM_003165.4(STXBP1):c.1557T>A (p.Tyr519Ter) SNV Pathogenic 590289 rs1564357089 GRCh37: 9:130444694-130444694
GRCh38: 9:127682415-127682415
10 overlap with 3 genes Deletion Pathogenic 598748 GRCh37: 9:130248090-130388197
GRCh38:
11 STXBP1 NM_001032221.6(STXBP1):c.1492dup (p.His498fs) Duplication Pathogenic 620007 rs1564356269 GRCh37: 9:130442465-130442466
GRCh38: 9:127680186-127680187
12 overlap with 7 genes GRCh37/hg19 9q34.11(chr9:130335766-130517907) copy number loss Pathogenic 625638 GRCh37: 9:130335766-130517907
GRCh38:
13 LMX1B GRCh37/hg19 9q33.3(chr9:129414011-129460757) copy number loss Pathogenic 625639 GRCh37: 9:129414011-129460757
GRCh38:
14 STXBP1 NM_003165.4(STXBP1):c.1029+1G>C SNV Pathogenic 212326 rs727504173 GRCh37: 9:130434396-130434396
GRCh38: 9:127672117-127672117
15 STXBP1 NM_003165.4(STXBP1):c.902+1G>A SNV Pathogenic 375214 rs886041978 GRCh37: 9:130430467-130430467
GRCh38: 9:127668188-127668188
16 STXBP1 NM_003165.4(STXBP1):c.1006C>T (p.Gln336Ter) SNV Pathogenic 375464 rs1057519501 GRCh37: 9:130434372-130434372
GRCh38: 9:127672093-127672093
17 STXBP1 NM_001032221.4(STXBP1):c.87+2T>C SNV Pathogenic 436894 rs1554775960 GRCh37: 9:130413933-130413933
GRCh38: 9:127651654-127651654
18 STXBP1 NM_003165.4(STXBP1):c.692dup (p.Ile232fs) Duplication Pathogenic 560298 rs1564351388 GRCh37: 9:130428472-130428473
GRCh38: 9:127666193-127666194
19 STXBP1 NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter) SNV Pathogenic 802508 rs1461664423 GRCh37: 9:130420725-130420725
GRCh38: 9:127658446-127658446
20 STXBP1 NM_001032221.6(STXBP1):c.430-1G>A SNV Pathogenic 802511 rs796053354 GRCh37: 9:130425483-130425483
GRCh38: 9:127663204-127663204
21 STXBP1 NM_001032221.6(STXBP1):c.579-1G>A SNV Pathogenic 802512 rs1588317190 GRCh37: 9:130427525-130427525
GRCh38: 9:127665246-127665246
22 STXBP1 NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer) Deletion Pathogenic 802514 rs1588339898 GRCh37: 9:130438208-130438208
GRCh38: 9:127675929-127675929
23 STXBP1 NM_001032221.6(STXBP1):c.1427C>A (p.Ser476Ter) SNV Pathogenic 812664 rs1564355614 GRCh37: 9:130440777-130440777
GRCh38: 9:127678498-127678498
24 CDKL5 NM_001323289.2(CDKL5):c.1099C>T (p.Leu367=) SNV Pathogenic 813743 rs1602286005 GRCh37: X:18622143-18622143
GRCh38: X:18604023-18604023
25 STXBP1 NM_001032221.6(STXBP1):c.246+2_325+14del Deletion Pathogenic 827636 GRCh37: 9:130420732-130422401
GRCh38: 9:127658453-127660122
26 STXBP1 NM_001032221.6(STXBP1):c.1030del (p.Tyr344fs) Deletion Pathogenic 812177 GRCh37: 9:130435460-130435460
GRCh38: 9:127673181-127673181
27 STXBP1 NM_001032221.6(STXBP1):c.1588G>T (p.Glu530Ter) SNV Pathogenic 870202 GRCh37: 9:130444725-130444725
GRCh38: 9:127682446-127682446
28 STXBP1 NM_001032221.6(STXBP1):c.663+1G>A SNV Pathogenic 973279 GRCh37: 9:130427611-130427611
GRCh38: 9:127665332-127665332
29 overlap with 4 genes GRCh37/hg19 9q34.11(chr9:130435492-130485618)x1 copy number loss Pathogenic 932281 GRCh37: 9:130435492-130485618
GRCh38:
30 STXBP1 NM_001032221.6(STXBP1):c.374_375del (p.Lys125fs) Deletion Pathogenic 976064 GRCh37: 9:130423428-130423429
GRCh38: 9:127661149-127661150
31 STXBP1 NM_001032221.6(STXBP1):c.1630G>T (p.Gly544Cys) SNV Pathogenic 982594 GRCh37: 9:130444767-130444767
GRCh38: 9:127682488-127682488
32 STXBP1 NM_001032221.6(STXBP1):c.1381_1390dup (p.Arg464fs) Duplication Pathogenic 973268 GRCh37: 9:130440722-130440723
GRCh38: 9:127678443-127678444
33 overlap with 29 genes GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1 copy number loss Pathogenic 983307 GRCh37: 9:128512347-130702572
GRCh38:
34 STXBP1 NM_001032221.6(STXBP1):c.1111-2A>G SNV Pathogenic 461286 rs1554778417 GRCh37: 9:130438081-130438081
GRCh38: 9:127675802-127675802
35 STXBP1 NM_003165.4(STXBP1):c.326-1G>T SNV Pathogenic 461293 rs1554776948 GRCh37: 9:130423380-130423380
GRCh38: 9:127661101-127661101
36 STXBP1 NM_003165.4(STXBP1):c.1652G>A (p.Arg551His) SNV Pathogenic 566474 rs796053374 GRCh37: 9:130444789-130444789
GRCh38: 9:127682510-127682510
37 STXBP1 NM_003165.4(STXBP1):c.847G>A (p.Glu283Lys) SNV Pathogenic 127076 rs587777310 GRCh37: 9:130430411-130430411
GRCh38: 9:127668132-127668132
38 STXBP1 NM_003165.4(STXBP1):c.704G>A (p.Arg235Gln) SNV Pathogenic 199083 rs794727970 GRCh37: 9:130428485-130428485
GRCh38: 9:127666206-127666206
39 STXBP1 NM_001032221.6(STXBP1):c.1261G>T (p.Glu421Ter) SNV Pathogenic 807506 rs1588341629 GRCh37: 9:130438934-130438934
GRCh38: 9:127676655-127676655
40 STXBP1 NM_003165.4(STXBP1):c.170-2A>G SNV Pathogenic 488800 rs1554776674 GRCh37: 9:130420652-130420652
GRCh38: 9:127658373-127658373
41 STXBP1 NM_003165.4(STXBP1):c.1427C>G (p.Ser476Ter) SNV Pathogenic 620472 rs1564355614 GRCh37: 9:130440777-130440777
GRCh38: 9:127678498-127678498
42 STXBP1 NM_003165.4(STXBP1):c.1702+1G>A SNV Pathogenic 207444 rs796053377 GRCh37: 9:130444840-130444840
GRCh38: 9:127682561-127682561
43 STXBP1 NM_003165.4(STXBP1):c.1381_1390del (p.Lys461fs) Deletion Pathogenic 449337 rs1554778657 GRCh37: 9:130440723-130440732
GRCh38: 9:127678444-127678453
44 STXBP1 NM_003165.4(STXBP1):c.256_257TC[4] (p.Ile88fs) Microsatellite Pathogenic 419724 GRCh37: 9:130422316-130422317
GRCh38: 9:127660037-127660038
45 STXBP1 NM_001032221.6(STXBP1):c.1570A>T (p.Lys524Ter) SNV Pathogenic 997678 GRCh37: 9:130444707-130444707
GRCh38: 9:127682428-127682428
46 STXBP1 NM_003165.4(STXBP1):c.1162C>T (p.Arg388Ter) SNV Pathogenic 6730 rs121918321 GRCh37: 9:130438134-130438134
GRCh38: 9:127675855-127675855
47 STXBP1 NM_003165.4(STXBP1):c.364C>T (p.Arg122Ter) SNV Pathogenic 198157 rs794727792 GRCh37: 9:130423419-130423419
GRCh38: 9:127661140-127661140
48 STXBP1 NM_003165.4(STXBP1):c.568C>T (p.Arg190Trp) SNV Pathogenic 207417 GRCh37: 9:130425622-130425622
GRCh38: 9:127663343-127663343
49 STXBP1 NM_003165.4(STXBP1):c.1439C>T (p.Pro480Leu) SNV Pathogenic 207432 rs796053368 GRCh37: 9:130440789-130440789
GRCh38: 9:127678510-127678510
50 STXBP1 NM_003165.4(STXBP1):c.1651C>T (p.Arg551Cys) SNV Pathogenic 207440 rs796053373 GRCh37: 9:130444788-130444788
GRCh38: 9:127682509-127682509

Expression for Stxbp1 Encephalopathy

Search GEO for disease gene expression data for Stxbp1 Encephalopathy.

Pathways for Stxbp1 Encephalopathy

GO Terms for Stxbp1 Encephalopathy

Cellular components related to Stxbp1 Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glutamatergic synapse GO:0098978 8.62 STXBP1 CDKL5

Sources for Stxbp1 Encephalopathy

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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