MCID: STX004
MIFTS: 20

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 23 25
Eiee4 23 50 25
Early-Infantile Epileptic Encephalopathy 4 23 25
Early Infantile Epileptic Encephalopathy 4 50 29
Stxbp1-Related Early-Onset Encephalopathy 50 25
Stxbp1 Epileptic Encephalopathy 23 25
Epileptic Encephalopathy, Early Infantile, 4 69
Stxbp1-Related Epileptic Encephalopathy 25

Characteristics:

GeneReviews:

23
Penetrance Almost all individuals with pathogenic variants in stxbp1 had global developmental delay, cognitive dysfunction, intellectual disability, and/or epilepsy...

Classifications:



Summaries for Stxbp1 Encephalopathy with Epilepsy

NIH Rare Diseases : 50 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. last updated: 2/29/2016

MalaCards based summary : Stxbp1 Encephalopathy with Epilepsy, also known as eiee4, is related to epileptic encephalopathy, early infantile, 4 and epilepsy, and has symptoms including tremor and seizures, tonic. 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. In most people with this disorder, seizures stop by age 1 but the other neurological problems continue throughout life.

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:

id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 4 11.0
2 epilepsy 9.9
3 encephalopathy 9.9

Symptoms & Phenotypes for Stxbp1 Encephalopathy with Epilepsy

UMLS symptoms related to Stxbp1 Encephalopathy with Epilepsy:


tremor, seizures, tonic

Drugs & Therapeutics for Stxbp1 Encephalopathy with Epilepsy

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Molecular Genetics in Infantile Spasms Completed NCT02885389

Search NIH Clinical Center for Stxbp1 Encephalopathy with Epilepsy

Genetic Tests for Stxbp1 Encephalopathy with Epilepsy

Genetic tests related to Stxbp1 Encephalopathy with Epilepsy:

id Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 4 29

Anatomical Context for Stxbp1 Encephalopathy with Epilepsy

MalaCards organs/tissues related to Stxbp1 Encephalopathy with Epilepsy:

39
Brain

Publications for Stxbp1 Encephalopathy with Epilepsy

Articles related to Stxbp1 Encephalopathy with Epilepsy:

id 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 all 21)
id 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.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh37 Chromosome 9, 130425593: 130425593
3 STXBP1 NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh37 Chromosome 9, 130439001: 130439001
4 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh37 Chromosome 9, 130422313: 130422313
5 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
6 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh37 Chromosome 9, 130416076: 130416076
7 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
8 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
9 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
10 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
11 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
12 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
13 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
14 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
15 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh37 Chromosome 9, 130444788: 130444788
16 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
17 STXBP1 NM_003165.3(STXBP1): c.1217G> A (p.Arg406His) single nucleotide variant Pathogenic rs886041246 GRCh37 Chromosome 9, 130438189: 130438189
18 STXBP1 NM_003165.3(STXBP1): c.400_401delAA (p.Asn134Tyrfs) deletion Pathogenic rs886044141 GRCh37 Chromosome 9, 130423455: 130423456
19 STXBP1 NM_003165.3(STXBP1): c.902+1G> A single nucleotide variant Pathogenic rs886041978 GRCh37 Chromosome 9, 130430467: 130430467
20 STXBP1 NM_003165.3(STXBP1): c.1006C> T (p.Gln336Ter) single nucleotide variant Pathogenic rs1057519501 GRCh37 Chromosome 9, 130434372: 130434372
21 STXBP1 NM_001032221.3(STXBP1): c.87+2T> C single nucleotide variant Pathogenic GRCh38 Chromosome 9, 127651654: 127651654

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

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