EIEE4
MCID: EPL027
MIFTS: 38

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, absence seizures and muscle spasticity. An important gene associated with Epileptic Encephalopathy, Early Infantile, 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain, 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

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

(show top 50) (show all 151)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 12.6
2 eosinophilia-myalgia syndrome 12.2
3 erythema multiforme 12.0
4 epileptic encephalopathy, early infantile, 3 11.8
5 stxbp1 encephalopathy with epilepsy 11.4
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 11.0
11 idiopathic hemiconvulsion-hemiplegia syndrome 11.0
12 encephalopathy 10.7
13 cardiac arrest 10.3
14 ohtahara syndrome 10.3
15 medial medullary syndrome 10.2
16 early infantile epileptic encephalopathy 10.1
17 biotinidase deficiency 10.0
18 spinal muscular atrophy, type i 10.0
19 epileptic encephalopathy, early infantile, 15 10.0
20 west syndrome 10.0
21 spinal muscular atrophy 10.0
22 nephrotic syndrome 10.0
23 nephronophthisis 10.0
24 epilepsy 10.0
25 muscular atrophy 10.0
26 schinzel giedion syndrome 10.0
27 prostate cancer 9.9
28 helicobacter pylori infection 9.9
29 prostate cancer, hereditary, 8 9.9
30 prostate cancer, hereditary, 6 9.9
31 dengue virus 9.9
32 patulous eustachian tube 9.9
33 diarrhea 9.9
34 bipolar i disorder 9.9
35 amyloidosis 9.9
36 spondyloenchondrodysplasia 9.9
37 isolated optic neuritis 9.9
38 renal cell carcinoma, nonpapillary 9.9
39 retinoblastoma 9.9
40 moyamoya disease 1 9.9
41 ocular motor apraxia 9.9
42 ventricular fibrillation, paroxysmal familial, 1 9.9
43 cervical cancer 9.9
44 endometrial cancer 9.9
45 muscle hypertrophy 9.9
46 bipolar disorder 9.9
47 leukemia 9.9
48 morbid obesity 9.9
49 severe acute respiratory syndrome 9.9
50 pneumonia 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 status epilepticus 33 HP:0002133
10 spastic paraplegia 33 HP:0001258
11 generalized hypotonia 33 HP:0001290
12 hypoplasia of the corpus callosum 33 HP:0002079
13 cerebral atrophy 33 HP:0002059
14 hypsarrhythmia 33 HP:0002521
15 generalized tonic seizures 33 HP:0010818
16 epileptic encephalopathy 33 HP:0200134
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
status epilepticus
spastic paraplegia
cerebral atrophy
more
Head And Neck Eyes:
poor visual pursuit

Clinical features from OMIM:

612164

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 4:


tremor, absence seizures, muscle spasticity, myoclonic 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

Publications for Epileptic Encephalopathy, Early Infantile, 4

Articles related to Epileptic Encephalopathy, Early Infantile, 4:

(show all 30)
# Title Authors Year
1
Epilepsy in Biotinidase Deficiency Is Distinct from Early Myoclonic Encephalopathy. ( 30001564 )
2018
2
A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation. ( 28687180 )
2017
3
A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy. ( 27789573 )
2016
4
Early Myoclonic Encephalopathy in 9q33-q34 Deletion Encompassing STXBP1 and SPTAN1. ( 25779878 )
2015
5
A novel AMT gene mutation in a newborn with nonketotic hyperglycinemia and early myoclonic encephalopathy. ( 26371980 )
2015
6
Successful treatment of early myoclonic encephalopathy using lidocaine and carbamazepine. ( 23886871 )
2013
7
Schinzel-Giedion syndrome: a further cause of early myoclonic encephalopathy and vacuolating myelinopathy. ( 21507589 )
2012
8
[The clinical and electroencephalographic characteristics of early myoclonic encephalopathy]. ( 23324144 )
2012
9
Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia. ( 22261077 )
2012
10
Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy. ( 23044011 )
2012
11
Dextromethorphan in the treatment of early myoclonic encephalopathy evolving into migrating partial seizures in infancy. ( 22656400 )
2012
12
Functional cortical deafferentation from the subcortical structures in a patient with early myoclonic encephalopathy: a functional neuroimaging study. ( 19922588 )
2010
13
Early myoclonic encephalopathy. ( 19812426 )
2009
14
Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4. ( 18854870 )
2009
15
Early myoclonic encephalopathy and nonketotic hyperglycinemia. ( 19818941 )
2009
16
Are early myoclonic encephalopathy (EME) and the Ohtahara syndrome (EIEE) independent of each other? ( 16829044 )
2006
17
Vigabatrin caused rapidly progressive deterioration in two cases with early myoclonic encephalopathy associated with nonketotic hyperglycinemia. ( 16551461 )
2006
18
Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. ( 16829045 )
2006
19
Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy. ( 16010070 )
2005
20
Topiramate for the treatment of infants with early myoclonic encephalopathy. ( 23649028 )
2003
21
Neuropathology of early-infantile epileptic encephalopathy with suppression-bursts; comparison with those of early myoclonic encephalopathy and West syndrome. ( 11701285 )
2001
22
A neurodegenerative disorder with early myoclonic encephalopathy, retinal pigmentary degeneration and nephronophthisis. ( 10761830 )
2000
23
The controversy regarding diagnostic criteria for early myoclonic encephalopathy. ( 9840674 )
1998
24
A case of early myoclonic encephalopathy with the congenital nephrotic syndrome. ( 9105663 )
1997
25
[Early myoclonic encephalopathy and spinal muscular atrophy type I]. ( 7476749 )
1995
26
Burst suppression and impairment of neocortical ontogenesis: electroclinical and neuropathologic findings in two infants with early myoclonic encephalopathy. ( 8404728 )
1993
27
Early infantile epileptic syndromes with suppression-bursts: early myoclonic encephalopathy vs. Ohtahara syndrome. ( 8271543 )
1993
28
Clinical seizure manifestations in a case of early myoclonic encephalopathy. ( 2124298 )
1990
29
Early myoclonic encephalopathy, early infantile epileptic encephalopathy, and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. ( 2120281 )
1990
30
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 87)
# Gene Variation Type Significance SNP ID Assembly Location
1 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh37 Chromosome 9, 130425487: 130425487
2 STXBP1 NM_003165.3(STXBP1): c.433T> C (p.Tyr145His) single nucleotide variant Likely pathogenic rs587784455 GRCh38 Chromosome 9, 127663208: 127663208
3 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh37 Chromosome 9, 130428495: 130428495
4 STXBP1 NM_003165.3(STXBP1): c.714C> A (p.Asp238Glu) single nucleotide variant Uncertain significance rs587784456 GRCh38 Chromosome 9, 127666216: 127666216
5 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh37 Chromosome 9, 130428515: 130428515
6 STXBP1 NM_001032221.3(STXBP1): c.734A> G (p.His245Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs587784453 GRCh38 Chromosome 9, 127666236: 127666236
7 STXBP1 NM_001032221.3(STXBP1): c.754_755del (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh37 Chromosome 9, 130428535: 130428536
8 STXBP1 NM_001032221.3(STXBP1): c.754_755del (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh38 Chromosome 9, 127666256: 127666257
9 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
10 STXBP1 NM_003165.3(STXBP1): c.1029+1G> T single nucleotide variant Pathogenic rs727504173 GRCh37 Chromosome 9, 130434396: 130434396
11 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh37 Chromosome 9, 130430438: 130430438
12 STXBP1 NM_003165.3(STXBP1): c.874C> T (p.Arg292Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs786205598 GRCh38 Chromosome 9, 127668159: 127668159
13 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh37 Chromosome 9, 130423419: 130423419
14 STXBP1 NM_003165.3(STXBP1): c.364C> T (p.Arg122Ter) single nucleotide variant Pathogenic rs794727792 GRCh38 Chromosome 9, 127661140: 127661140
15 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727970 GRCh37 Chromosome 9, 130428485: 130428485
16 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Pathogenic/Likely pathogenic rs794727970 GRCh38 Chromosome 9, 127666206: 127666206
17 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
18 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh37 Chromosome 9, 130423471: 130423471
19 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
20 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh38 Chromosome 9, 127663343: 127663343
21 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
22 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh37 Chromosome 9, 130428484: 130428484
23 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
24 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh38 Chromosome 9, 127668160: 127668160
25 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh38 Chromosome 9, 127678510: 127678510
26 STXBP1 NM_003165.3(STXBP1): c.1439C> T (p.Pro480Leu) single nucleotide variant Pathogenic rs796053368 GRCh37 Chromosome 9, 130440789: 130440789
27 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh37 Chromosome 9, 130444788: 130444788
28 STXBP1 NM_003165.3(STXBP1): c.1651C> T (p.Arg551Cys) single nucleotide variant Pathogenic rs796053373 GRCh38 Chromosome 9, 127682509: 127682509
29 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh37 Chromosome 9, 130434396: 130434396
30 STXBP1 NM_003165.3(STXBP1): c.1029+1G> C single nucleotide variant Pathogenic rs727504173 GRCh38 Chromosome 9, 127672117: 127672117
31 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh37 Chromosome 9, 130444768: 130444768
32 STXBP1 NM_003165.3(STXBP1): c.1631G> A (p.Gly544Asp) single nucleotide variant Pathogenic rs121918317 GRCh38 Chromosome 9, 127682489: 127682489
33 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh37 Chromosome 9, 130425593: 130425593
34 STXBP1 NM_003165.3(STXBP1): c.539G> A (p.Cys180Tyr) single nucleotide variant Pathogenic rs121918318 GRCh38 Chromosome 9, 127663314: 127663314
35 STXBP1 NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh37 Chromosome 9, 130439001: 130439001
36 STXBP1 NM_003165.3(STXBP1): c.1328T> G (p.Met443Arg) single nucleotide variant Pathogenic rs121918319 GRCh38 Chromosome 9, 127676722: 127676722
37 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh37 Chromosome 9, 130422313: 130422313
38 STXBP1 NM_003165.3(STXBP1): c.251T> A (p.Val84Asp) single nucleotide variant Pathogenic rs121918320 GRCh38 Chromosome 9, 127660034: 127660034
39 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh37 Chromosome 9, 130438134: 130438134
40 STXBP1 NM_003165.3(STXBP1): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121918321 GRCh38 Chromosome 9, 127675855: 127675855
41 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh37 Chromosome 9, 130416076: 130416076
42 STXBP1 NM_003165.3(STXBP1): c.169+1G> A single nucleotide variant Pathogenic rs587776641 GRCh38 Chromosome 9, 127653797: 127653797
43 STXBP1 NM_003165.3(STXBP1): c.1548C> T (p.Ser516=) single nucleotide variant Benign/Likely benign rs145304925 GRCh37 Chromosome 9, 130444685: 130444685
44 STXBP1 NM_003165.3(STXBP1): c.1548C> T (p.Ser516=) single nucleotide variant Benign/Likely benign rs145304925 GRCh38 Chromosome 9, 127682406: 127682406
45 STXBP1 NM_003165.3(STXBP1): c.325+8C> T single nucleotide variant Benign/Likely benign rs117372398 GRCh37 Chromosome 9, 130422395: 130422395
46 STXBP1 NM_003165.3(STXBP1): c.325+8C> T single nucleotide variant Benign/Likely benign rs117372398 GRCh38 Chromosome 9, 127660116: 127660116
47 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh37 Chromosome 9, 130430411: 130430411
48 STXBP1 NM_003165.3(STXBP1): c.847G> A (p.Glu283Lys) single nucleotide variant Pathogenic rs587777310 GRCh38 Chromosome 9, 127668132: 127668132
49 STXBP1 NM_003165.3(STXBP1): c.247-8A> G single nucleotide variant Benign/Likely benign rs199827018 GRCh37 Chromosome 9, 130422301: 130422301
50 STXBP1 NM_003165.3(STXBP1): c.247-8A> G single nucleotide variant Benign/Likely benign rs199827018 GRCh38 Chromosome 9, 127660022: 127660022

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

Sources for Epileptic Encephalopathy, Early Infantile, 4

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