EIEE13
MCID: EPL082
MIFTS: 27

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 58 76 13 74
Early Infantile Epileptic Encephalopathy 13 12 30 6 15
Eiee13 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of seizures before age 2 years


HPO:

33
epileptic encephalopathy, early infantile, 13:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Epileptic Encephalopathy, Early Infantile, 13

UniProtKB/Swiss-Prot : 76 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 liver and eye, 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.

Description from OMIM: 614558

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

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 11.6
2 scn8a-related epilepsy with encephalopathy 11.5

Symptoms & Phenotypes for Epileptic Encephalopathy, Early Infantile, 13

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cerebral atrophy 33 occasional (7.5%) HP:0002059
2 intellectual disability 33 HP:0001249
3 developmental regression 33 HP:0002376
4 global developmental delay 33 HP:0001263
5 autism 33 HP:0000717
6 epileptic encephalopathy 33 HP:0200134
7 generalized hypotonia 33 HP:0001290
8 epileptic spasms 33 HP:0011097
9 progressive microcephaly 33 HP:0000253

Symptoms via clinical synopsis from OMIM:

58
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 30 SCN8A

Anatomical Context for Epileptic Encephalopathy, Early Infantile, 13

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

42
Liver, Eye

Publications for Epileptic Encephalopathy, Early Infantile, 13

Articles related to Epileptic Encephalopathy, Early Infantile, 13:

# Title Authors Year
1
Autosomal dominant SCN8A mutation with an unusually mild phenotype. ( 27210545 )
2016
2
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy. ( 25725044 )
2015
3
Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. ( 25239001 )
2014
4
Early onset epileptic encephalopathy caused by de novo SCN8A mutations. ( 24888894 )
2014
5
Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. ( 23708187 )
2013
6
De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. ( 22365152 )
2012

Variations for Epileptic Encephalopathy, Early Infantile, 13

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

76 (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

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

6 (show top 50) (show all 113)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN8A NM_014191.3(SCN8A): c.5302A> G (p.Asn1768Asp) single nucleotide variant Pathogenic rs202151337 GRCh37 Chromosome 12, 52200572: 52200572
2 SCN8A NM_014191.3(SCN8A): c.5302A> G (p.Asn1768Asp) single nucleotide variant Pathogenic rs202151337 GRCh38 Chromosome 12, 51806788: 51806788
3 SCN8A NM_014191.3(SCN8A): c.3991C> G (p.Leu1331Val) single nucleotide variant Pathogenic rs397514738 GRCh37 Chromosome 12, 52180374: 52180374
4 SCN8A NM_014191.3(SCN8A): c.3991C> G (p.Leu1331Val) single nucleotide variant Pathogenic rs397514738 GRCh38 Chromosome 12, 51786590: 51786590
5 SCN8A NM_014191.3(SCN8A): c.4748T> C (p.Ile1583Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201458257 GRCh37 Chromosome 12, 52188378: 52188378
6 SCN8A NM_014191.3(SCN8A): c.4748T> C (p.Ile1583Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201458257 GRCh38 Chromosome 12, 51794594: 51794594
7 SCN8A NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu) single nucleotide variant Likely pathogenic rs587780454 GRCh37 Chromosome 12, 52188404: 52188404
8 SCN8A NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu) single nucleotide variant Likely pathogenic rs587780454 GRCh38 Chromosome 12, 51794620: 51794620
9 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh37 Chromosome 12, 52200900: 52200900
10 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh38 Chromosome 12, 51807116: 51807116
11 SCN8A NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587780586 GRCh37 Chromosome 12, 52159459: 52159459
12 SCN8A NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs587780586 GRCh38 Chromosome 12, 51765675: 51765675
13 SCN8A NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 GRCh38 Chromosome 12, 51806336: 51806336
14 SCN8A NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 GRCh37 Chromosome 12, 52200120: 52200120
15 SCN8A NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 GRCh38 Chromosome 12, 51789397: 51789397
16 SCN8A NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 GRCh37 Chromosome 12, 52183181: 52183181
17 SCN8A NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 GRCh38 Chromosome 12, 51789396: 51789396
18 SCN8A NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 GRCh37 Chromosome 12, 52183180: 52183180
19 SCN8A NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 GRCh37 Chromosome 12, 52082594: 52082594
20 SCN8A NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 GRCh38 Chromosome 12, 51688810: 51688810
21 SCN8A NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 GRCh38 Chromosome 12, 51768915: 51768915
22 SCN8A NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 GRCh37 Chromosome 12, 52162699: 52162699
23 SCN8A NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser) single nucleotide variant Uncertain significance rs863223345 GRCh37 Chromosome 12, 52183134: 52183134
24 SCN8A NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser) single nucleotide variant Uncertain significance rs863223345 GRCh38 Chromosome 12, 51789350: 51789350
25 SCN8A NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp) single nucleotide variant Likely pathogenic rs794727362 GRCh37 Chromosome 12, 52180368: 52180368
26 SCN8A NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp) single nucleotide variant Likely pathogenic rs794727362 GRCh38 Chromosome 12, 51786584: 51786584
27 SCN8A NM_014191.3(SCN8A): c.457A> C (p.Asn153His) single nucleotide variant Uncertain significance rs796053232 GRCh37 Chromosome 12, 52080213: 52080213
28 SCN8A NM_014191.3(SCN8A): c.457A> C (p.Asn153His) single nucleotide variant Uncertain significance rs796053232 GRCh38 Chromosome 12, 51686429: 51686429
29 SCN8A NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg) single nucleotide variant Pathogenic/Likely pathogenic rs796053216 GRCh37 Chromosome 12, 52184185: 52184185
30 SCN8A NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg) single nucleotide variant Pathogenic/Likely pathogenic rs796053216 GRCh38 Chromosome 12, 51790401: 51790401
31 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh37 Chromosome 12, 52184197: 52184197
32 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh38 Chromosome 12, 51790413: 51790413
33 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
34 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic rs796053228 GRCh37 Chromosome 12, 52200884: 52200884
35 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh37 Chromosome 12, 52145307: 52145307
36 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh38 Chromosome 12, 51751523: 51751523
37 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh38 Chromosome 12, 51765801: 51765801
38 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh37 Chromosome 12, 52159585: 52159585
39 SCN8A NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser) single nucleotide variant Likely pathogenic rs869312690 GRCh37 Chromosome 12, 52200546: 52200546
40 SCN8A NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser) single nucleotide variant Likely pathogenic rs869312690 GRCh38 Chromosome 12, 51806762: 51806762
41 SCN8A NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val) single nucleotide variant Pathogenic rs879255706 GRCh37 Chromosome 12, 52200083: 52200083
42 SCN8A NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val) single nucleotide variant Pathogenic rs879255706 GRCh38 Chromosome 12, 51806299: 51806299
43 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh37 Chromosome 12, 52082556: 52082556
44 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh38 Chromosome 12, 51688772: 51688772
45 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh38 Chromosome 12, 51688784: 51688784
46 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh37 Chromosome 12, 52082568: 52082568
47 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh37 Chromosome 12, 52082570: 52082570
48 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh38 Chromosome 12, 51688786: 51688786
49 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh38 Chromosome 12, 51688790: 51688790
50 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh37 Chromosome 12, 52082574: 52082574

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

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