EIEE4
MCID: EPL027
MIFTS: 40

Epileptic Encephalopathy, Early Infantile, 4 (EIEE4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal 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 58 76 13 74
Early Infantile Epileptic Encephalopathy 4 12 54 30 6 15
Eiee4 58 54 76
Early Myoclonic Encephalopathy 76 74
Neonatal Epilepsy with Suppression-Burst Pattern 76
Stxbp1-Related Early-Onset Encephalopathy 54
Stxbp1 Disorders 54
Eme 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
epileptic encephalopathy, early infantile, 4:
Onset and clinical course variable expressivity neonatal onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 4

NIH Rare Diseases : 54 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 myoclonic encephalopathy and eosinophilia-myalgia 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, kidney and prostate, 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 : 76 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.

Description from OMIM: 612164

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

Diseases related to Epileptic Encephalopathy, Early Infantile, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 193)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 12.6
2 eosinophilia-myalgia syndrome 12.3
3 erythema multiforme 12.0
4 epileptic encephalopathy, early infantile, 3 11.8
5 stxbp1 encephalopathy with epilepsy 11.5
6 pulmonary fibrosis, idiopathic 11.4
7 erythromelalgia 11.3
8 pulmonary embolism 11.2
9 encephalopathy, ethylmalonic 11.1
10 alpha-1-antitrypsin deficiency 11.1
11 encephalopathy 10.7
12 cardiac arrest 10.5
13 ohtahara syndrome 10.3
14 medial medullary syndrome 10.1
15 myocardial infarction 10.1
16 early infantile epileptic encephalopathy 10.1
17 influenza 10.0
18 spondyloenchondrodysplasia 10.0
19 biotinidase deficiency 9.9
20 spinal muscular atrophy, type i 9.9
21 glycine encephalopathy 9.9
22 epileptic encephalopathy, early infantile, 15 9.9
23 epileptic encephalopathy, infantile or early childhood, 2 9.9
24 west syndrome 9.9
25 familial nephrotic syndrome 9.9
26 spinal muscular atrophy 9.9
27 nephrotic syndrome 9.9
28 nephronophthisis 9.9
29 epilepsy 9.9
30 muscular atrophy 9.9
31 schinzel giedion syndrome 9.9
32 seizure disorder 9.9
33 prostate cancer 9.9
34 helicobacter pylori infection 9.9
35 asthma 9.9
36 prostate cancer, hereditary, 8 9.9
37 ventricular fibrillation, paroxysmal familial, 1 9.9
38 anxiety 9.9
39 prostate cancer, hereditary, 6 9.9
40 dengue virus 9.9
41 blood group, gerbich system 9.9
42 helix syndrome 9.9
43 brain injury 9.9
44 diabetes mellitus 9.9
45 traumatic brain injury 9.9
46 patulous eustachian tube 9.9
47 diarrhea 9.9
48 bipolar i disorder 9.9
49 amyloidosis 9.9
50 depression 9.9

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:

33 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 33 HP:0001337
2 developmental regression 33 HP:0002376
3 spastic tetraplegia 33 HP:0002510
4 intellectual disability, severe 33 HP:0010864
5 generalized myoclonic seizures 33 HP:0002123
6 severe global developmental delay 33 HP:0011344
7 absent speech 33 HP:0001344
8 generalized tonic-clonic seizures 33 HP:0002069
9 generalized tonic seizures 33 HP:0010818
10 epileptic encephalopathy 33 HP:0200134
11 status epilepticus 33 HP:0002133
12 hypsarrhythmia 33 HP:0002521
13 spastic paraplegia 33 HP:0001258
14 generalized hypotonia 33 HP:0001290
15 hypoplasia of the corpus callosum 33 HP:0002079
16 cerebral atrophy 33 HP:0002059
17 infantile encephalopathy 33 HP:0007105
18 epileptic spasms 33 HP:0011097
19 eeg with burst suppression 33 HP:0010851
20 cerebral hypomyelination 33 HP:0006808
21 impaired horizontal smooth pursuit 33 HP:0001151

Symptoms via clinical synopsis from OMIM:

58
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 30 STXBP1

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

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

42
Brain, Kidney, Prostate, T Cells, Liver, Eye, Spinal Cord

Publications for Epileptic Encephalopathy, Early Infantile, 4

Articles related to Epileptic Encephalopathy, Early Infantile, 4:

(show all 34)
# Title Authors Year
1
A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital. ( 31027651 )
2019
2
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
3
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. ( 28687180 )
2018
4
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2017
5
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. ( 26371980 )
2016
6
Early myoclonic encephalopathy in 9q33-q34 deletion encompassing STXBP1 and SPTAN1. ( 25779878 )
2015
7
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. ( 24623842 )
2014
8
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. ( 23886871 )
2013
9
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
10
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
11
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
12
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
13
[The clinical and electroencephalographic characteristics of early myoclonic encephalopathy]. ( 23324144 )
2012
14
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
15
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
16
Early myoclonic encephalopathy. ( 19812426 )
2009
17
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
18
De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. ( 19557857 )
2009
19
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. ( 18469812 )
2008
20
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
21
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
22
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
23
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
24
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
25
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
26
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
27
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
28
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
29
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. ( 7476749 )
1995
30
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
31
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
32
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
33
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
34
Clinical and electroencephalographical follow-up study of early myoclonic encephalopathy. ( 2510534 )
1989

Variations for Epileptic Encephalopathy, Early Infantile, 4

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 4:

76 (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

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

6 (show top 50) (show all 89)
# 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.1548C> T (p.Ser516=) single nucleotide variant Benign/Likely benign rs145304925 GRCh37 Chromosome 9, 130444685: 130444685
14 STXBP1 NM_003165.3(STXBP1): c.1548C> T (p.Ser516=) single nucleotide variant Benign/Likely benign rs145304925 GRCh38 Chromosome 9, 127682406: 127682406
15 STXBP1 NM_003165.3(STXBP1): c.325+8C> T single nucleotide variant Benign/Likely benign rs117372398 GRCh37 Chromosome 9, 130422395: 130422395
16 STXBP1 NM_003165.3(STXBP1): c.325+8C> T single nucleotide variant Benign/Likely benign rs117372398 GRCh38 Chromosome 9, 127660116: 127660116
17 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
18 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh38 Chromosome 9, 127668132: 127668132
19 STXBP1 NM_003165.3(STXBP1): c.247-8A> G single nucleotide variant Benign/Likely benign rs199827018 GRCh37 Chromosome 9, 130422301: 130422301
20 STXBP1 NM_003165.3(STXBP1): c.247-8A> G single nucleotide variant Benign/Likely benign rs199827018 GRCh38 Chromosome 9, 127660022: 127660022
21 STXBP1 NM_003165.3(STXBP1): c.1680C> T (p.Asn560=) single nucleotide variant Conflicting interpretations of pathogenicity rs201809337 GRCh37 Chromosome 9, 130444817: 130444817
22 STXBP1 NM_003165.3(STXBP1): c.1680C> T (p.Asn560=) single nucleotide variant Conflicting interpretations of pathogenicity rs201809337 GRCh38 Chromosome 9, 127682538: 127682538
23 STXBP1 NM_003165.3(STXBP1): c.1702+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs147607230 GRCh37 Chromosome 9, 130444849: 130444849
24 STXBP1 NM_003165.3(STXBP1): c.1702+10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs147607230 GRCh38 Chromosome 9, 127682570: 127682570
25 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh37 Chromosome 9, 130425487: 130425487
26 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh38 Chromosome 9, 127663208: 127663208
27 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh37 Chromosome 9, 130428495: 130428495
28 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh38 Chromosome 9, 127666216: 127666216
29 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh37 Chromosome 9, 130428515: 130428515
30 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh38 Chromosome 9, 127666236: 127666236
31 STXBP1 NM_001032221.3(STXBP1): c.754_755del (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh37 Chromosome 9, 130428535: 130428536
32 STXBP1 NM_001032221.3(STXBP1): c.754_755del (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
33 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh37 Chromosome 9, 130434396: 130434396
34 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
35 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh37 Chromosome 9, 130430438: 130430438
36 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh38 Chromosome 9, 127668159: 127668159
37 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
38 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
39 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic rs794727970 GRCh37 Chromosome 9, 130428485: 130428485
40 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic rs794727970 GRCh38 Chromosome 9, 127666206: 127666206
41 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
42 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh37 Chromosome 9, 130423471: 130423471
43 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
44 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh38 Chromosome 9, 127663343: 127663343
45 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
46 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh37 Chromosome 9, 130428484: 130428484
47 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
48 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh38 Chromosome 9, 127668160: 127668160
49 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh38 Chromosome 9, 127678510: 127678510
50 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789

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

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