MCID: EPL026
MIFTS: 30

Epileptic Encephalopathy, Early Infantile, 3

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 3

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

Name: Epileptic Encephalopathy, Early Infantile, 3 57 75 13
Early Myoclonic Encephalopathy 75 73
Eiee3 57 75
Encephalopathy, Epileptic, Early Infantile, Type 3 40
Neonatal Epilepsy with Suppression-Burst Pattern 75
Eme 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
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 : 75 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

OMIM : 57 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 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
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, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 early myoclonic encephalopathy 12.4
2 eosinophilia-myalgia syndrome 12.0
3 erythema multiforme 11.8
4 epileptic encephalopathy, early infantile, 4 11.6
5 encephalopathy 10.6
6 epileptic encephalopathy, early infantile, 15 10.0
7 epilepsy 10.0
8 infantile epileptic encephalopathy 10.0
9 spinal muscular atrophy, type i 9.8
10 epileptic encephalopathy, early infantile, 7 9.8
11 west syndrome 9.8
12 spinal muscular atrophy 9.8
13 nephrotic syndrome 9.8
14 nephronophthisis 9.8
15 retinitis 9.8
16 muscular atrophy 9.8
17 type i 9.8
18 schinzel giedion syndrome 9.8

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 spasticity 32 HP:0001257
2 neonatal hypotonia 32 HP:0001319
3 abnormality of visual evoked potentials 32 HP:0000649
4 generalized myoclonic seizures 32 HP:0002123
5 cerebral atrophy 32 HP:0002059
6 epileptic encephalopathy 32 HP:0200134
7 progressive microcephaly 32 HP:0000253
8 delayed myelination 32 HP:0012448

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

75
# 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 268)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh37 Chromosome 11, 792429: 792429
2 SLC25A22 NM_001191061.1(SLC25A22): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic rs121918334 GRCh38 Chromosome 11, 792429: 792429
3 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh37 Chromosome 11, 792340: 792340
4 SLC25A22 NM_001191061.1(SLC25A22): c.706G> T (p.Gly236Trp) single nucleotide variant Pathogenic rs121918335 GRCh38 Chromosome 11, 792340: 792340
5 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh38 Chromosome 11, 792954: 792954
6 SLC25A22 NM_001191061.1(SLC25A22): c.328G> C (p.Gly110Arg) single nucleotide variant Pathogenic rs587777243 GRCh37 Chromosome 11, 792954: 792954
7 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh37 Chromosome 11, 791881: 791881
8 SLC25A22 NM_024698.5(SLC25A22): c.*34A> G single nucleotide variant Uncertain significance rs74994790 GRCh38 Chromosome 11, 791881: 791881
9 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh37 Chromosome 11, 791990: 791990
10 SLC25A22 NM_024698.5(SLC25A22): c.897C> T (p.Phe299=) single nucleotide variant Uncertain significance rs7124179 GRCh38 Chromosome 11, 791990: 791990
11 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh37 Chromosome 11, 792666: 792666
12 SLC25A22 NM_024698.5(SLC25A22): c.474C> T (p.Pro158=) single nucleotide variant Uncertain significance rs556959164 GRCh38 Chromosome 11, 792666: 792666
13 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh37 Chromosome 11, 794481: 794481
14 SLC25A22 NM_024698.5(SLC25A22): c.179A> G (p.Glu60Gly) single nucleotide variant Uncertain significance rs587784387 GRCh38 Chromosome 11, 794481: 794481
15 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh37 Chromosome 11, 792722: 792722
16 SLC25A22 NM_024698.5(SLC25A22): c.418C> T (p.Gln140Ter) single nucleotide variant Pathogenic rs797045969 GRCh38 Chromosome 11, 792722: 792722
17 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh38 Chromosome 11, 792888: 792888
18 SLC25A22 NM_024698.5(SLC25A22): c.394C> T (p.Gln132Ter) single nucleotide variant Pathogenic/Likely pathogenic GRCh37 Chromosome 11, 792888: 792888
19 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh38 Chromosome 7, 120741593: 120741593
20 KCND2 NM_012281.2(KCND2): c.1338G> A (p.Gln446=) single nucleotide variant Likely benign rs144966242 GRCh37 Chromosome 7, 120381647: 120381647
21 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh38 Chromosome 7, 120275088: 120275088
22 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh37 Chromosome 7, 119914728: 119914728
23 KCND2 NM_012281.2(KCND2): c.42A> G (p.Ala14=) single nucleotide variant Likely benign rs758651064 GRCh38 Chromosome 7, 120274674: 120274674
24 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh37 Chromosome 7, 119914902: 119914902
25 KCND2 NM_012281.2(KCND2): c.216G> A (p.Arg72=) single nucleotide variant Likely benign rs140949631 GRCh38 Chromosome 7, 120274848: 120274848
26 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh38 Chromosome 7, 120275064: 120275064
27 KCND2 NM_012281.2(KCND2): c.432C> T (p.Asn144=) single nucleotide variant Likely benign rs150367628 GRCh37 Chromosome 7, 119915118: 119915118
28 KCND2 NM_012281.2(KCND2): c.456G> A (p.Ala152=) single nucleotide variant Benign rs116322872 GRCh37 Chromosome 7, 119915142: 119915142
29 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh38 Chromosome 7, 120275378: 120275378
30 KCND2 NM_012281.2(KCND2): c.746C> T (p.Ala249Val) single nucleotide variant Likely benign rs146220085 GRCh37 Chromosome 7, 119915432: 119915432
31 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh37 Chromosome 7, 119915635: 119915635
32 KCND2 NM_012281.2(KCND2): c.949C> T (p.Leu317=) single nucleotide variant Likely benign rs3814462 GRCh38 Chromosome 7, 120275581: 120275581
33 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh37 Chromosome 7, 119915664: 119915664
34 KCND2 NM_012281.2(KCND2): c.978C> T (p.Phe326=) single nucleotide variant Likely benign GRCh38 Chromosome 7, 120275610: 120275610
35 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh38 Chromosome 7, 120742502: 120742502
36 KCND2 NM_012281.2(KCND2): c.1375-8G> T single nucleotide variant Likely benign rs201244697 GRCh37 Chromosome 7, 120382556: 120382556
37 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh38 Chromosome 7, 120745797: 120745797
38 KCND2 NM_012281.2(KCND2): c.1485C> T (p.Asp495=) single nucleotide variant Likely benign rs772458094 GRCh37 Chromosome 7, 120385851: 120385851
39 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh37 Chromosome 7, 119915487: 119915487
40 KCND2 NM_012281.2(KCND2): c.801G> A (p.Val267=) single nucleotide variant Benign rs375854186 GRCh38 Chromosome 7, 120275433: 120275433
41 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh38 Chromosome 7, 120745785: 120745785
42 KCND2 NM_012281.2(KCND2): c.1473C> T (p.His491=) single nucleotide variant Benign rs145422660 GRCh37 Chromosome 7, 120385839: 120385839
43 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign GRCh38 Chromosome 10, 63197466: 63197466
44 JMJD1C NM_032776.2(JMJD1C): c.5589T> C (p.Cys1863=) single nucleotide variant Likely benign GRCh37 Chromosome 10, 64957226: 64957226
45 JMJD1C NM_032776.2(JMJD1C): c.5396T> C (p.Ile1799Thr) single nucleotide variant Uncertain significance rs367650429 GRCh37 Chromosome 10, 64958368: 64958368
46 JMJD1C NM_032776.2(JMJD1C): c.5396T> C (p.Ile1799Thr) single nucleotide variant Uncertain significance rs367650429 GRCh38 Chromosome 10, 63198608: 63198608
47 JMJD1C NM_032776.2(JMJD1C): c.4180A> T (p.Thr1394Ser) single nucleotide variant Likely benign rs139881253 GRCh37 Chromosome 10, 64967249: 64967249
48 JMJD1C NM_032776.2(JMJD1C): c.4180A> T (p.Thr1394Ser) single nucleotide variant Likely benign rs139881253 GRCh38 Chromosome 10, 63207489: 63207489
49 JMJD1C NM_032776.2(JMJD1C): c.3565T> C (p.Leu1189=) single nucleotide variant Likely benign rs372806250 GRCh37 Chromosome 10, 64967864: 64967864
50 JMJD1C NM_032776.2(JMJD1C): c.3565T> C (p.Leu1189=) single nucleotide variant Likely benign rs372806250 GRCh38 Chromosome 10, 63208104: 63208104

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

Sources for Epileptic Encephalopathy, Early Infantile, 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....