EIEE3
MCID: EPL026
MIFTS: 34

Epileptic Encephalopathy, Early Infantile, 3 (EIEE3)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 3

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 3:

Name: Epileptic Encephalopathy, Early Infantile, 3 58 76 13
Early Myoclonic Encephalopathy 76 74
Eiee3 58 76
Encephalopathy, Epileptic, Early Infantile, Type 3 41
Neonatal Epilepsy with Suppression-Burst Pattern 76
Early Infantile Epileptic Encephalopathy 3 12
Eme 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
early death
severe phenotype
onset in first hours to days of life


HPO:

33
epileptic encephalopathy, early infantile, 3:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 3

UniProtKB/Swiss-Prot : 76 Epileptic encephalopathy, early infantile, 3: 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. Epileptic encephalopathy early infantile type 3 is characterized by a very early onset, erratic and fragmentary myoclonus, massive myoclonus, partial motor seizures and late tonic spasms. The prognosis is poor, with no effective treatment, and children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 3, also known as early myoclonic encephalopathy, is related to early myoclonic encephalopathy and eosinophilia-myalgia syndrome, and has symptoms including muscle spasticity An important gene associated with Epileptic Encephalopathy, Early Infantile, 3 is SLC25A22 (Solute Carrier Family 25 Member 22). Related phenotypes are spasticity and neonatal hypotonia

Disease Ontology : 12 An early infantile epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has material basis in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15.

OMIM : 58 Early infantile epileptic encephalopathy is characterized by onset during the first months of life of erratic refractory seizures, usually myoclonic. The prognosis is poor, and most children with the condition either die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases (Molinari et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (308350). (609304)

Related Diseases for Epileptic Encephalopathy, Early Infantile, 3

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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 150)
# 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, 4 11.8
5 pulmonary fibrosis, idiopathic 11.4
6 erythromelalgia 11.3
7 pulmonary embolism 11.2
8 encephalopathy, ethylmalonic 11.1
9 alpha-1-antitrypsin deficiency 11.0
10 idiopathic hemiconvulsion-hemiplegia syndrome 11.0
11 encephalopathy 10.7
12 cardiac arrest 10.3
13 ohtahara syndrome 10.3
14 medial medullary syndrome 10.2
15 early infantile epileptic encephalopathy 10.1
16 biotinidase deficiency 10.0
17 spinal muscular atrophy, type i 10.0
18 epileptic encephalopathy, early infantile, 15 10.0
19 west syndrome 10.0
20 spinal muscular atrophy 10.0
21 nephrotic syndrome 10.0
22 nephronophthisis 10.0
23 epilepsy 10.0
24 muscular atrophy 10.0
25 schinzel giedion syndrome 10.0
26 prostate cancer 9.9
27 helicobacter pylori infection 9.9
28 prostate cancer, hereditary, 8 9.9
29 prostate cancer, hereditary, 6 9.9
30 dengue virus 9.9
31 patulous eustachian tube 9.9
32 diarrhea 9.9
33 bipolar i disorder 9.9
34 amyloidosis 9.9
35 spondyloenchondrodysplasia 9.9
36 isolated optic neuritis 9.9
37 renal cell carcinoma, nonpapillary 9.9
38 retinoblastoma 9.9
39 moyamoya disease 1 9.9
40 ocular motor apraxia 9.9
41 ventricular fibrillation, paroxysmal familial, 1 9.9
42 cervical cancer 9.9
43 endometrial cancer 9.9
44 muscle hypertrophy 9.9
45 bipolar disorder 9.9
46 leukemia 9.9
47 morbid obesity 9.9
48 severe acute respiratory syndrome 9.9
49 pneumonia 9.9
50 measles 9.9

Graphical network of the top 20 diseases related to Epileptic Encephalopathy, Early Infantile, 3:



Diseases related to Epileptic Encephalopathy, Early Infantile, 3

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 3

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 3:

33 (show all 8)
# Description HPO Frequency HPO Source Accession
1 spasticity 33 HP:0001257
2 neonatal hypotonia 33 HP:0001319
3 abnormality of visual evoked potentials 33 HP:0000649
4 generalized myoclonic seizures 33 HP:0002123
5 cerebral atrophy 33 HP:0002059
6 epileptic encephalopathy 33 HP:0200134
7 progressive microcephaly 33 HP:0000253
8 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
spasticity
cerebral atrophy
delayed myelination
myoclonic seizures, intractable
clonic seizures
more
Head And Neck Head:
microcephaly, progressive

Muscle Soft Tissue:
hypotonia, neonatal

Clinical features from OMIM:

609304

UMLS symptoms related to Epileptic Encephalopathy, Early Infantile, 3:


muscle spasticity

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 3

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 3

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 3

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 3

Publications for Epileptic Encephalopathy, Early Infantile, 3

Articles related to Epileptic Encephalopathy, Early Infantile, 3:

(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, 3

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 3:

76
# Symbol AA change Variation ID SNP ID
1 SLC25A22 p.Pro206Leu VAR_022737 rs121918334

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 3:

6 (show top 50) (show all 354)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh37 Chromosome 11, 791881: 791881
2 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh38 Chromosome 11, 791881: 791881
3 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh37 Chromosome 11, 791990: 791990
4 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh38 Chromosome 11, 791990: 791990
5 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh37 Chromosome 11, 792666: 792666
6 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh38 Chromosome 11, 792666: 792666
7 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh37 Chromosome 11, 794481: 794481
8 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh38 Chromosome 11, 794481: 794481
9 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh37 Chromosome 11, 792722: 792722
10 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
11 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
12 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh38 Chromosome 11, 792429: 792429
13 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
14 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh38 Chromosome 11, 792340: 792340
15 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
16 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh37 Chromosome 11, 792954: 792954
17 SLC25A22 NM_024698.5(SLC25A22): c.151G> A (p.Asp51Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116134953 GRCh38 Chromosome 11, 794509: 794509
18 SLC25A22 NM_024698.5(SLC25A22): c.151G> A (p.Asp51Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs116134953 GRCh37 Chromosome 11, 794509: 794509
19 SLC25A22 NM_024698.5(SLC25A22): c.413-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs376015598 GRCh38 Chromosome 11, 792735: 792735
20 SLC25A22 NM_024698.5(SLC25A22): c.413-8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs376015598 GRCh37 Chromosome 11, 792735: 792735
21 JMJD1C NM_032776.2(JMJD1C): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs766449028 GRCh37 Chromosome 10, 64979703: 64979703
22 JMJD1C NM_032776.2(JMJD1C): c.488C> T (p.Pro163Leu) single nucleotide variant Uncertain significance rs766449028 GRCh38 Chromosome 10, 63219943: 63219943
23 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554965669 GRCh38 Chromosome 11, 792888: 792888
24 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1554965669 GRCh37 Chromosome 11, 792888: 792888
25 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh37 Chromosome 7, 120381647: 120381647
26 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh38 Chromosome 7, 120741593: 120741593
27 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh37 Chromosome 7, 119914728: 119914728
28 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh38 Chromosome 7, 120274674: 120274674
29 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh37 Chromosome 7, 119914902: 119914902
30 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh38 Chromosome 7, 120274848: 120274848
31 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh38 Chromosome 7, 120275064: 120275064
32 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh37 Chromosome 7, 119915118: 119915118
33 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh38 Chromosome 7, 120275088: 120275088
34 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh37 Chromosome 7, 119915142: 119915142
35 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh37 Chromosome 7, 119915432: 119915432
36 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh38 Chromosome 7, 120275378: 120275378
37 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh37 Chromosome 7, 119915635: 119915635
38 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh38 Chromosome 7, 120275581: 120275581
39 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign rs1554421107 GRCh37 Chromosome 7, 119915664: 119915664
40 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign rs1554421107 GRCh38 Chromosome 7, 120275610: 120275610
41 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh38 Chromosome 7, 120742502: 120742502
42 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh37 Chromosome 7, 120382556: 120382556
43 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh37 Chromosome 7, 120385851: 120385851
44 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh38 Chromosome 7, 120745797: 120745797
45 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh38 Chromosome 7, 120275433: 120275433
46 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh37 Chromosome 7, 119915487: 119915487
47 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh38 Chromosome 7, 120745785: 120745785
48 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh37 Chromosome 7, 120385839: 120385839
49 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign rs1554833174 GRCh38 Chromosome 10, 63197466: 63197466
50 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign rs1554833174 GRCh37 Chromosome 10, 64957226: 64957226

Expression for Epileptic Encephalopathy, Early Infantile, 3

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 3.

Pathways for Epileptic Encephalopathy, Early Infantile, 3

GO Terms for Epileptic Encephalopathy, Early Infantile, 3

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