EIEE4
MCID: EPL027
MIFTS: 37

Epileptic Encephalopathy, Early Infantile, 4 (EIEE4)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle 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 57 75 13 73
Early Myoclonic Encephalopathy 75 73
Eiee4 57 75
Neonatal Epilepsy with Suppression-Burst Pattern 75
Eme 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 4, also known as early myoclonic encephalopathy, is related to early myoclonic encephalopathy and eosinophilia-myalgia syndrome, and has symptoms including tremor, absence seizures and myoclonic seizures. An important gene associated with Epileptic Encephalopathy, Early Infantile, 4 is STXBP1 (Syntaxin Binding Protein 1). Affiliated tissues include brain, liver and eye, and related phenotypes are tremor and developmental regression

Description from OMIM: 612164

Related Diseases for Epileptic Encephalopathy, Early Infantile, 4

Diseases in the 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, 25
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
Early Infantile Epileptic Encephalopathy Infantile Epileptic Encephalopathy 56
Infantile Epileptic Encephalopathy 55 Infantile Epileptic Encephalopathy 57
Infantile Epileptic Encephalopathy 58 Infantile Epileptic Encephalopathy 59

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

(show top 50) (show all 130)
# 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 11.4
6 pulmonary fibrosis, idiopathic 11.4
7 erythromelalgia 11.3
8 pulmonary embolism 11.2
9 encephalopathy, ethylmalonic 11.0
10 alpha-1-antitrypsin deficiency 11.0
11 encephalopathy 10.7
12 cardiac arrest 10.4
13 medial medullary syndrome 10.1
14 early infantile epileptic encephalopathy 10.1
15 infantile epileptic encephalopathy 10.1
16 myocardial infarction 10.1
17 biotinidase deficiency 9.9
18 spinal muscular atrophy, type i 9.9
19 epileptic encephalopathy, early infantile, 7 9.9
20 epileptic encephalopathy, early infantile, 15 9.9
21 west syndrome 9.9
22 spinal muscular atrophy 9.9
23 nephrotic syndrome 9.9
24 nephronophthisis 9.9
25 epilepsy 9.9
26 muscular atrophy 9.9
27 schinzel giedion syndrome 9.9
28 prostate cancer 9.9
29 diarrhea 9.9
30 bipolar i disorder 9.9
31 alzheimer disease 9.9
32 diabetes mellitus, noninsulin-dependent 9.9
33 retinoblastoma 9.9
34 rheumatoid arthritis 9.9
35 helicobacter pylori infection 9.9
36 ventricular fibrillation, paroxysmal familial, 1 9.9
37 anxiety 9.9
38 muscle hypertrophy 9.9
39 dengue virus 9.9
40 bipolar disorder 9.9
41 brain injury 9.9
42 diabetes mellitus 9.9
43 gas gangrene 9.9
44 traumatic brain injury 9.9
45 severe acute respiratory syndrome 9.9
46 ischemia 9.9
47 endophthalmitis 9.9
48 kidney disease 9.9
49 influenza 9.9
50 chorioretinitis 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 4:

32 (show all 21)
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 developmental regression 32 HP:0002376
3 spastic tetraplegia 32 HP:0002510
4 intellectual disability, severe 32 HP:0010864
5 generalized myoclonic seizures 32 HP:0002123
6 severe global developmental delay 32 HP:0011344
7 absent speech 32 HP:0001344
8 generalized tonic-clonic seizures 32 HP:0002069
9 status epilepticus 32 HP:0002133
10 spastic paraplegia 32 HP:0001258
11 generalized hypotonia 32 HP:0001290
12 hypoplasia of the corpus callosum 32 HP:0002079
13 cerebral atrophy 32 HP:0002059
14 hypsarrhythmia 32 HP:0002521
15 generalized tonic seizures 32 HP:0010818
16 epileptic encephalopathy 32 HP:0200134
17 epileptic spasms 32 HP:0011097
18 eeg with burst suppression 32 HP:0010851
19 cerebral hypomyelination 32 HP:0006808
20 impaired horizontal smooth pursuit 32 HP:0001151
21 infantile encephalopathy 32 HP:0007105

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


tremor, absence seizures, myoclonic seizures, muscle spasticity, 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

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 4

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

41
Brain, Liver, Eye, Kidney, Breast, T Cells, Salivary Gland

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:

75 (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 86)
# 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_755delAT (p.Met252Glufs) deletion Pathogenic rs587784454 GRCh37 Chromosome 9, 130428535: 130428536
32 STXBP1 NM_001032221.3(STXBP1): c.754_755delAT (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 Conflicting interpretations of pathogenicity rs794727970 GRCh37 Chromosome 9, 130428485: 130428485
40 STXBP1 NM_003165.3(STXBP1): c.704G> A (p.Arg235Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs794727970 GRCh38 Chromosome 9, 127666206: 127666206
41 STXBP1 NM_003165.3(STXBP1): c.87+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs796053350 GRCh37 Chromosome 9, 130413932: 130413932
42 STXBP1 NM_003165.3(STXBP1): c.87+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs796053350 GRCh38 Chromosome 9, 127651653: 127651653
43 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh38 Chromosome 9, 127661192: 127661192
44 STXBP1 NM_003165.3(STXBP1): c.416C> T (p.Pro139Leu) single nucleotide variant Pathogenic/Likely pathogenic rs796053353 GRCh37 Chromosome 9, 130423471: 130423471
45 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh37 Chromosome 9, 130425622: 130425622
46 STXBP1 NM_003165.3(STXBP1): c.568C> T (p.Arg190Trp) single nucleotide variant Pathogenic rs796053355 GRCh38 Chromosome 9, 127663343: 127663343
47 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh38 Chromosome 9, 127666205: 127666205
48 STXBP1 NM_003165.3(STXBP1): c.703C> T (p.Arg235Ter) single nucleotide variant Pathogenic rs796053359 GRCh37 Chromosome 9, 130428484: 130428484
49 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh37 Chromosome 9, 130430439: 130430439
50 STXBP1 NM_003165.3(STXBP1): c.875G> A (p.Arg292His) single nucleotide variant Pathogenic rs796053361 GRCh38 Chromosome 9, 127668160: 127668160

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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