EIEE4
MCID: STX004
MIFTS: 14

Stxbp1 Encephalopathy with Epilepsy (EIEE4)

Aliases & Classifications for Stxbp1 Encephalopathy with Epilepsy

MalaCards integrated aliases for Stxbp1 Encephalopathy with Epilepsy:

Name: Stxbp1 Encephalopathy with Epilepsy 25
Epileptic Encephalopathy, Early Infantile, 4 70
Early-Infantile Epileptic Encephalopathy 4 25
Stxbp1 Epileptic Encephalopathy 25
Eiee4 25

Characteristics:

GeneReviews:

25
Penetrance Almost all individuals with pathogenic variants in stxbp1 had developmental delay, cognitive dysfunction, intellectual disability, and/or epilepsy.

External Ids:

UMLS 70 C2677326

Summaries for Stxbp1 Encephalopathy with Epilepsy

MalaCards based summary : Stxbp1 Encephalopathy with Epilepsy, also known as epileptic encephalopathy, early infantile, 4, is related to developmental and epileptic encephalopathy 4 and stxbp1 encephalopathy, and has symptoms including tremor, myoclonic seizures and absence seizures. An important gene associated with Stxbp1 Encephalopathy with Epilepsy is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include eye.

GeneReviews: NBK396561

Related Diseases for Stxbp1 Encephalopathy with Epilepsy

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 developmental and epileptic encephalopathy 4 11.5
2 stxbp1 encephalopathy 11.4
3 rett syndrome 10.1
4 dravet syndrome 10.1
5 alacrima, achalasia, and mental retardation syndrome 10.1
6 west syndrome 10.1
7 autism spectrum disorder 10.1
8 movement disease 10.1
9 dystonia 10.1
10 encephalopathy 10.1
11 ohtahara syndrome 10.1

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



Diseases related to Stxbp1 Encephalopathy with Epilepsy

Symptoms & Phenotypes for Stxbp1 Encephalopathy with Epilepsy

UMLS symptoms related to Stxbp1 Encephalopathy with Epilepsy:


tremor; myoclonic seizures; absence seizures; tonic seizures

Drugs & Therapeutics for Stxbp1 Encephalopathy with Epilepsy

Search Clinical Trials , NIH Clinical Center for Stxbp1 Encephalopathy with Epilepsy

Genetic Tests for Stxbp1 Encephalopathy with Epilepsy

Anatomical Context for Stxbp1 Encephalopathy with Epilepsy

MalaCards organs/tissues related to Stxbp1 Encephalopathy with Epilepsy:

40
Eye

Publications for Stxbp1 Encephalopathy with Epilepsy

Articles related to Stxbp1 Encephalopathy with Epilepsy:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation. 61 25
26212315 2016
2
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 25
26795593 2016
3
Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 25
27184330 2016
4
9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping. 25
26395556 2016
5
STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 25
26865513 2016
6
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 25
26537360 2016
7
Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy. 25
26384463 2016
8
Identification of novel genetic causes of Rett syndrome-like phenotypes. 25
26740508 2016
9
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 25
26648591 2016
10
Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. 25
27069701 2016
11
Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations. 25
26658169 2016
12
Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 25
26514728 2015
13
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25
25914188 2015
14
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood. 25
25818041 2015
15
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. 25
25779878 2015
16
Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy. 25
23533165 2015
17
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25
25714420 2015
18
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome. 25
25497044 2015
19
A novel de novo STXBP1 mutation is associated with mitochondrial complex I deficiency and late-onset juvenile-onset parkinsonism. 25
25418441 2015
20
Analysis of mutations in 7 genes associated with neuronal excitability and synaptic transmission in a cohort of children with non-syndromic infantile epileptic encephalopathy. 25
25951140 2015
21
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? 25
26421060 2015
22
The genetic landscape of infantile spasms. 25
24781210 2014
23
Chromosome 9q33q34 microdeletion with early infantile epileptic encephalopathy, severe dystonia, abnormal eye movements, and nephroureteral malformations. 25
24938147 2014
24
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes. 25
24253858 2014
25
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 25
24623842 2014
26
A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. 25
24170257 2014
27
Folinic acid responsive epilepsy in Ohtahara syndrome caused by STXBP1 mutation. 25
24315539 2014
28
Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype? 25
24189369 2014
29
Developing a PPI inhibitor-based therapy for STXBP1 haploinsufficiency-associated epileptic disorders. 25
24550774 2014
30
A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency. 25
24095819 2013
31
De novo mutations in epileptic encephalopathies. 25
23934111 2013
32
Head stereotypies in STXBP1 encephalopathy. 25
23763664 2013
33
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 25
23662938 2013
34
Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers. 25
23409955 2013
35
Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy. 25
23531706 2013
36
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. 25
23020937 2012
37
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 25
22722545 2012
38
Targeted next generation sequencing as a diagnostic tool in epileptic disorders. 25
22612257 2012
39
A novel STXBP1 mutation causes focal seizures with neonatal onset. 25
22596016 2012
40
Association of genomic deletions in the STXBP1 gene with Ohtahara syndrome. 25
22211739 2012
41
Paternal mosaicism of an STXBP1 mutation in OS. 25
21062273 2011
42
STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients. 25
21762454 2011
43
Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 25
21770924 2011
44
Intellectual disability without epilepsy associated with STXBP1 disruption. 25
21364700 2011
45
STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 25
20887364 2010
46
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 25
21204804 2010
47
Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 25
20876469 2010
48
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 25
19557857 2009
49
Conformational switch of syntaxin-1 controls synaptic vesicle fusion. 25
18703708 2008
50
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 25
18469812 2008

Variations for Stxbp1 Encephalopathy with Epilepsy

Expression for Stxbp1 Encephalopathy with Epilepsy

Search GEO for disease gene expression data for Stxbp1 Encephalopathy with Epilepsy.

Pathways for Stxbp1 Encephalopathy with Epilepsy

GO Terms for Stxbp1 Encephalopathy with Epilepsy

Sources for Stxbp1 Encephalopathy with Epilepsy

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
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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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