EIEE13
MCID: EPL082
MIFTS: 28

Epileptic Encephalopathy, Early Infantile, 13 (EIEE13)

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

Aliases & Classifications for Epileptic Encephalopathy, Early Infantile, 13

MalaCards integrated aliases for Epileptic Encephalopathy, Early Infantile, 13:

Name: Epileptic Encephalopathy, Early Infantile, 13 57 74 13 72
Early Infantile Epileptic Encephalopathy 13 12 29 6 15
Eiee13 57 74
Encephalopathy, Epileptic, Early Infantile, Type 13 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures before age 2 years


HPO:

32
epileptic encephalopathy, early infantile, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080445
MeSH 44 D013036
MedGen 42 C3281191
UMLS 72 C3281191

Summaries for Epileptic Encephalopathy, Early Infantile, 13

UniProtKB/Swiss-Prot : 74 Epileptic encephalopathy, early infantile, 13: A 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. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.

MalaCards based summary : Epileptic Encephalopathy, Early Infantile, 13, also known as early infantile epileptic encephalopathy 13, is related to scn8a encephalopathy and scn8a-related epilepsy with encephalopathy. An important gene associated with Epileptic Encephalopathy, Early Infantile, 13 is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include cortex, and related phenotypes are cerebral atrophy and intellectual disability

Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the SCN8A gene on chromosome 12q13.

More information from OMIM: 614558 PS308350

Related Diseases for Epileptic Encephalopathy, Early Infantile, 13

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
Epileptic Encephalopathy, Early Infantile, 75 Epileptic Encephalopathy, Early Infantile, 76

Diseases related to Epileptic Encephalopathy, Early Infantile, 13 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 scn8a encephalopathy 11.8
2 scn8a-related epilepsy with encephalopathy 11.6

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 13

Human phenotypes related to Epileptic Encephalopathy, Early Infantile, 13:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 32 occasional (7.5%) HP:0002059
2 intellectual disability 32 HP:0001249
3 developmental regression 32 HP:0002376
4 global developmental delay 32 HP:0001263
5 generalized hypotonia 32 HP:0001290
6 autism 32 HP:0000717
7 epileptic encephalopathy 32 HP:0200134
8 epileptic spasms 32 HP:0011097
9 progressive microcephaly 32 HP:0000253

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
intellectual disability
epileptic encephalopathy
epileptic spasms
seizures, refractory
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism

Head And Neck Head:
microcephaly, progressive (in some patients)

Clinical features from OMIM:

614558

Drugs & Therapeutics for Epileptic Encephalopathy, Early Infantile, 13

Search Clinical Trials , NIH Clinical Center for Epileptic Encephalopathy, Early Infantile, 13

Genetic Tests for Epileptic Encephalopathy, Early Infantile, 13

Genetic tests related to Epileptic Encephalopathy, Early Infantile, 13:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 13 29 SCN8A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 13

MalaCards organs/tissues related to Epileptic Encephalopathy, Early Infantile, 13:

41
Cortex

Publications for Epileptic Encephalopathy, Early Infantile, 13

Articles related to Epileptic Encephalopathy, Early Infantile, 13:

# Title Authors PMID Year
1
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. 8 71
25725044 2015
2
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. 8 71
25239001 2014
3
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. 8 71
24888894 2014
4
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 8 71
23708187 2013
5
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. 8 71
22365152 2012
6
Autosomal dominant SCN8A mutation with an unusually mild phenotype. 71
27210545 2016
7
SCN8A-Related Epilepsy with Encephalopathy 71
27559564 2016
8
Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy. 71
23339110 2013
9
Early forebrain wiring: genetic dissection using conditional Celsr3 mutant mice. 71
18487195 2008
10
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 38
28676574 2017

Variations for Epileptic Encephalopathy, Early Infantile, 13

ClinVar genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

6 (show top 50) (show all 57)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SCN8A NM_014191.4(SCN8A): c.4394A> T (p.Asp1465Val) single nucleotide variant Pathogenic rs1135401806 12:52183177-52183177 12:51789393-51789393
2 SCN8A NM_014191.4(SCN8A): c.5302A> G (p.Asn1768Asp) single nucleotide variant Pathogenic rs202151337 12:52200572-52200572 12:51806788-51806788
3 SCN8A NM_014191.4(SCN8A): c.3991C> G (p.Leu1331Val) single nucleotide variant Pathogenic rs397514738 12:52180374-52180374 12:51786590-51786590
4 SCN8A NM_014191.4(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 12:52200120-52200120 12:51806336-51806336
5 SCN8A NM_014191.4(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 12:52183181-52183181 12:51789397-51789397
6 SCN8A NM_014191.4(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 12:52183180-52183180 12:51789396-51789396
7 SCN8A NM_014191.4(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 12:52082594-52082594 12:51688810-51688810
8 SCN8A NM_014191.4(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 12:52162699-52162699 12:51768915-51768915
9 SCN8A NM_014191.4(SCN8A): c.629T> C (p.Phe210Ser) single nucleotide variant Pathogenic rs879255693 12:52082556-52082556 12:51688772-51688772
10 SCN8A NM_014191.4(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 12:52082568-52082568 12:51688784-51688784
11 SCN8A NM_014191.4(SCN8A): c.643A> G (p.Asn215Asp) single nucleotide variant Pathogenic rs879255695 12:52082570-52082570 12:51688786-51688786
12 SCN8A NM_014191.4(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 12:52082574-52082574 12:51688790-51688790
13 SCN8A NM_014191.4(SCN8A): c.779T> C (p.Phe260Ser) single nucleotide variant Pathogenic rs879255697 12:52093426-52093426 12:51699642-51699642
14 SCN8A NM_014191.4(SCN8A): c.1221G> C (p.Leu407Phe) single nucleotide variant Pathogenic rs879255698 12:52099287-52099287 12:51705503-51705503
15 SCN8A NM_014191.4(SCN8A): c.1228G> C (p.Val410Leu) single nucleotide variant Pathogenic rs879255699 12:52099294-52099294 12:51705510-51705510
16 SCN8A NM_014191.4(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 12:52184197-52184197 12:51790413-51790413
17 SCN8A NM_014191.4(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic rs796053228 12:52200884-52200884 12:51807100-51807100
18 SCN8A NM_014191.4(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 12:52145307-52145307 12:51751523-51751523
19 SCN8A NM_014191.4(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 12:52159585-52159585 12:51765801-51765801
20 SCN8A NM_014191.4(SCN8A): c.2537T> C (p.Phe846Ser) single nucleotide variant Pathogenic rs879255700 12:52156453-52156453 12:51762669-51762669
21 SCN8A NM_014191.4(SCN8A): c.2624T> A (p.Leu875Gln) single nucleotide variant Pathogenic rs879255701 12:52159534-52159534 12:51765750-51765750
22 SCN8A NM_014191.4(SCN8A): c.2668G> A (p.Ala890Thr) single nucleotide variant Pathogenic rs879255702 12:52159578-52159578 12:51765794-51765794
23 SCN8A NM_014191.4(SCN8A): c.2879T> A (p.Val960Asp) single nucleotide variant Pathogenic rs879255703 12:52159789-52159789 12:51766005-51766005
24 SCN8A NM_014191.4(SCN8A): c.4787C> G (p.Ser1596Cys) single nucleotide variant Pathogenic rs879255705 12:52188417-52188417 12:51794633-51794633
25 SCN8A NM_014191.4(SCN8A): c.4862T> G (p.Leu1621Trp) single nucleotide variant Pathogenic rs879255707 12:52200132-52200132 12:51806348-51806348
26 SCN8A NM_014191.4(SCN8A): c.4873G> A (p.Gly1625Arg) single nucleotide variant Pathogenic rs879255708 12:52200143-52200143 12:51806359-51806359
27 SCN8A NM_014191.4(SCN8A): c.4948G> A (p.Ala1650Thr) single nucleotide variant Pathogenic rs879255709 12:52200218-52200218 12:51806434-51806434
28 SCN8A NM_014191.4(SCN8A): c.5401C> G (p.Gln1801Glu) single nucleotide variant Pathogenic rs879255710 12:52200671-52200671 12:51806887-51806887
29 SCN8A NM_014191.4(SCN8A): c.5610A> T (p.Glu1870Asp) single nucleotide variant Pathogenic rs879255711 12:52200880-52200880 12:51807096-51807096
30 SCN8A NM_014191.4(SCN8A): c.5615G> A (p.Arg1872Gln) single nucleotide variant Pathogenic rs796053229 12:52200885-52200885 12:51807101-51807101
31 SCN8A NM_014191.4(SCN8A): c.2003C> T (p.Thr668Ile) single nucleotide variant Pathogenic rs758253791 12:52139691-52139691 12:51745907-51745907
32 SCN8A NP_055006.1(SCN8A): p.Pro1428_Lys1473del protein only Pathogenic
33 SCN8A NM_014191.4(SCN8A): c.4813A> G (p.Ile1605Val) single nucleotide variant Pathogenic rs879255706 12:52200083-52200083 12:51806299-51806299
34 SCN8A NM_014191.4(SCN8A): c.4423G> A (p.Gly1475Arg) single nucleotide variant Pathogenic/Likely pathogenic rs796053216 12:52184185-52184185 12:51790401-51790401
35 SCN8A NM_014191.4(SCN8A): c.4774G> C (p.Val1592Leu) single nucleotide variant Likely pathogenic rs587780454 12:52188404-52188404 12:51794620-51794620
36 SCN8A NM_014191.4(SCN8A): c.3979A> G (p.Ile1327Val) single nucleotide variant Likely pathogenic rs879255704 12:52180362-52180362 12:51786578-51786578
37 SCN8A NM_014191.4(SCN8A): c.5276A> G (p.Asn1759Ser) single nucleotide variant Likely pathogenic rs869312690 12:52200546-52200546 12:51806762-51806762
38 SCN8A NM_014191.4(SCN8A): c.647T> G (p.Val216Gly) single nucleotide variant Likely pathogenic rs879255696 12:52082574-52082574 12:51688790-51688790
39 SCN8A NM_014191.4(SCN8A): c.4403A> G (p.Asn1468Ser) single nucleotide variant Likely pathogenic rs1057518667 12:52183186-52183186 12:51789402-51789402
40 SCN8A NM_014191.4(SCN8A): c.5606T> C (p.Met1869Thr) single nucleotide variant Likely pathogenic rs1064794727 12:52200876-52200876 12:51807092-51807092
41 SCN8A NM_014191.4(SCN8A): c.2603T> C (p.Ile868Thr) single nucleotide variant Likely pathogenic rs1555225794 12:52159513-52159513 12:51765729-51765729
42 SCN8A NM_014191.4(SCN8A): c.4409A> C (p.Gln1470Pro) single nucleotide variant Likely pathogenic rs1555228771 12:52183192-52183192 12:51789408-51789408
43 SCN8A NM_014191.4(SCN8A): c.2620G> A (p.Ala874Thr) single nucleotide variant Likely pathogenic rs1057524820 12:52159530-52159530 12:51765746-51765746
44 SCN8A NM_014191.4(SCN8A): c.3267C> A (p.Asn1089Lys) single nucleotide variant Likely pathogenic rs761386688 12:52163014-52163014 12:51769230-51769230
45 SCN8A NM_014191.4(SCN8A): c.4748T> C (p.Ile1583Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201458257 12:52188378-52188378 12:51794594-51794594
46 SCN8A NM_014191.4(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 12:52200900-52200900 12:51807116-51807116
47 SCN8A NM_014191.4(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587780586 12:52159459-52159459 12:51765675-51765675
48 SCN8A NM_014191.4(SCN8A): c.4877G> A (p.Arg1626His) single nucleotide variant Conflicting interpretations of pathogenicity rs886044328 12:52200147-52200147 12:51806363-51806363
49 SCN8A NM_014191.4(SCN8A): c.5479A> G (p.Ile1827Val) single nucleotide variant Uncertain significance 12:52200749-52200749 12:51806965-51806965
50 SCN8A NM_014191.4(SCN8A): c.71A> G (p.Asn24Ser) single nucleotide variant Uncertain significance 12:52056672-52056672 12:51662888-51662888

UniProtKB/Swiss-Prot genetic disease variations for Epileptic Encephalopathy, Early Infantile, 13:

74 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SCN8A p.Asn1768Asp VAR_067539 rs202151337
2 SCN8A p.Val216Asp VAR_071674 rs879255696
3 SCN8A p.Phe846Ser VAR_071675 rs879255700
4 SCN8A p.Ile1327Val VAR_071676 rs879255704
5 SCN8A p.Asn1466Lys VAR_071677 rs587777722
6 SCN8A p.Asn1466Thr VAR_071678 rs587777723
7 SCN8A p.Arg1617Gln VAR_071679 rs587777721
8 SCN8A p.Ala1650Thr VAR_071680 rs879255709
9 SCN8A p.Arg1872Trp VAR_071681 rs796053228
10 SCN8A p.Arg223Gly VAR_072182 rs672601319
11 SCN8A p.Thr767Ile VAR_072183 rs797045013
12 SCN8A p.Ala890Thr VAR_076605 rs879255702
13 SCN8A p.Asn984Lys VAR_076607 rs876657399
14 SCN8A p.Gly1451Ser VAR_076609 rs863223345
15 SCN8A p.Arg1872Leu VAR_076615 rs796053229
16 SCN8A p.Arg1872Gln VAR_076616 rs796053229
17 SCN8A p.Asn1877Ser VAR_076617 rs587780455
18 SCN8A p.Ser978Gly VAR_078203 rs105751954
19 SCN8A p.Gly1475Arg VAR_078204 rs796053216
20 SCN8A p.Leu1279Val VAR_078613
21 SCN8A p.Phe210Leu VAR_078752
22 SCN8A p.Ser232Pro VAR_079722
23 SCN8A p.Arg850Glu VAR_079723
24 SCN8A p.Val891Met VAR_079724
25 SCN8A p.Val1598Ala VAR_079725

Expression for Epileptic Encephalopathy, Early Infantile, 13

Search GEO for disease gene expression data for Epileptic Encephalopathy, Early Infantile, 13.

Pathways for Epileptic Encephalopathy, Early Infantile, 13

GO Terms for Epileptic Encephalopathy, Early Infantile, 13

Sources for Epileptic Encephalopathy, Early Infantile, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
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28 GO
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30 HGMD
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34 ICD10 via Orphanet
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57 OMIM
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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