MCID: STX004
MIFTS: 17

Stxbp1 Encephalopathy with Epilepsy

Categories: Rare diseases

Aliases & Classifications for Stxbp1 Encephalopathy with Epilepsy

MalaCards integrated aliases for Stxbp1 Encephalopathy with Epilepsy:

Name: Stxbp1 Encephalopathy with Epilepsy 24 25
Early Infantile Epileptic Encephalopathy 4 53 29 6
Eiee4 24 53 25
Early-Infantile Epileptic Encephalopathy 4 24 25
Stxbp1-Related Early-Onset Encephalopathy 53 25
Stxbp1 Epileptic Encephalopathy 24 25
Encephalopathy, Epileptic, Early Infantile, Type 4 40
Epileptic Encephalopathy, Early Infantile, 4 73
Stxbp1-Related Epileptic Encephalopathy 25

Characteristics:

GeneReviews:

24
Penetrance Almost all individuals with pathogenic variants in stxbp1 had global developmental delay, cognitive dysfunction, intellectual disability, and/or epilepsy...

Classifications:



External Ids:

UMLS 73 C2677326

Summaries for Stxbp1 Encephalopathy with Epilepsy

NIH Rare Diseases : 53 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 : Stxbp1 Encephalopathy with Epilepsy, also known as early infantile epileptic encephalopathy 4, is related to epileptic encephalopathy, early infantile, 4 and epilepsy, and has symptoms including tremor, tonic seizures and absence seizures. An important gene associated with Stxbp1 Encephalopathy with Epilepsy is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain.

Genetics Home Reference : 25 STXBP1 encephalopathy with epilepsy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy but can first appear later in childhood or early adulthood. In many affected individuals, seizures stop in early childhood with the other neurological problems continuing throughout life. However, some people with STXBP1 encephalopathy with epilepsy have seizures that persist.

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:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 4 11.1
2 epilepsy 10.0
3 encephalopathy 10.0

Symptoms & Phenotypes for Stxbp1 Encephalopathy with Epilepsy

UMLS symptoms related to Stxbp1 Encephalopathy with Epilepsy:


tremor, tonic seizures, absence seizures, myoclonic 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

Genetic tests related to Stxbp1 Encephalopathy with Epilepsy:

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

Anatomical Context for Stxbp1 Encephalopathy with Epilepsy

MalaCards organs/tissues related to Stxbp1 Encephalopathy with Epilepsy:

41
Brain

Publications for Stxbp1 Encephalopathy with Epilepsy

Articles related to Stxbp1 Encephalopathy with Epilepsy:

# Title Authors Year
1
STXBP1 Encephalopathy with Epilepsy ( 27905812 )
1993

Variations for Stxbp1 Encephalopathy with Epilepsy

ClinVar genetic disease variations for Stxbp1 Encephalopathy with Epilepsy:

6
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh37 Chromosome 9, 130444768: 130444768
2 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh38 Chromosome 9, 127682489: 127682489
3 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh37 Chromosome 9, 130425593: 130425593
4 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh38 Chromosome 9, 127663314: 127663314
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.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh38 Chromosome 9, 127676722: 127676722
7 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh37 Chromosome 9, 130422313: 130422313
8 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh38 Chromosome 9, 127660034: 127660034
9 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
10 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh38 Chromosome 9, 127675855: 127675855
11 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh37 Chromosome 9, 130416076: 130416076
12 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh38 Chromosome 9, 127653797: 127653797
13 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
14 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh38 Chromosome 9, 127668132: 127668132
15 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh37 Chromosome 9, 130425487: 130425487
16 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh38 Chromosome 9, 127663208: 127663208
17 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh37 Chromosome 9, 130428495: 130428495
18 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh38 Chromosome 9, 127666216: 127666216
19 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh37 Chromosome 9, 130428515: 130428515
20 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh38 Chromosome 9, 127666236: 127666236
21 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh37 Chromosome 9, 130428535: 130428536
22 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
23 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh37 Chromosome 9, 130434396: 130434396
24 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
25 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh37 Chromosome 9, 130430438: 130430438
26 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh38 Chromosome 9, 127668159: 127668159
27 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
28 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
29 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs794727970 GRCh37 Chromosome 9, 130428485: 130428485
30 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs794727970 GRCh38 Chromosome 9, 127666206: 127666206
31 STXBP1 NM_003165.3(STXBP1): c.87+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs796053350 GRCh37 Chromosome 9, 130413932: 130413932
32 STXBP1 NM_003165.3(STXBP1): c.87+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs796053350 GRCh38 Chromosome 9, 127651653: 127651653
33 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
34 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh37 Chromosome 9, 130423471: 130423471
35 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
36 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh38 Chromosome 9, 127663343: 127663343
37 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
38 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh37 Chromosome 9, 130428484: 130428484
39 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
40 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh38 Chromosome 9, 127668160: 127668160
41 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh38 Chromosome 9, 127678510: 127678510
42 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
43 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh37 Chromosome 9, 130444788: 130444788
44 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh38 Chromosome 9, 127682509: 127682509
45 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh37 Chromosome 9, 130434396: 130434396
46 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
47 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
48 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh38 Chromosome 9, 127675910: 127675910
49 STXBP1 NM_003165.3(STXBP1): c.400_401delAA (p.Asn134Tyrfs) deletion Pathogenic rs886044141 GRCh37 Chromosome 9, 130423455: 130423456
50 STXBP1 NM_003165.3(STXBP1): c.400_401delAA (p.Asn134Tyrfs) deletion Pathogenic rs886044141 GRCh38 Chromosome 9, 127661176: 127661177

Expression for Stxbp1 Encephalopathy with Epilepsy

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Pathways for Stxbp1 Encephalopathy with Epilepsy

GO Terms for Stxbp1 Encephalopathy with Epilepsy

Sources for Stxbp1 Encephalopathy with Epilepsy

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