MCID: SCN060
MIFTS: 11

Scn8a-Related Epilepsy with Encephalopathy

Aliases & Classifications for Scn8a-Related Epilepsy with Encephalopathy

MalaCards integrated aliases for Scn8a-Related Epilepsy with Encephalopathy:

Name: Scn8a-Related Epilepsy with Encephalopathy 23 24
Early Infantile Epileptic Encephalopathy 13 24 28
Eiee13 23 24
Epileptic Encephalopathy, Early Infantile, 13 69
Early-Infantile Epileptic Encephalopathy 13 23
Scn8a Encephalopathy 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance for scn8a-related epilepsy with encephalopathy is unknown but assumed to be complete...

External Ids:

UMLS 69 C3281191

Summaries for Scn8a-Related Epilepsy with Encephalopathy

Genetics Home Reference : 24 SCN8A-related epilepsy with encephalopathy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability. The signs and symptoms of this condition typically begin in infancy.

MalaCards based summary : Scn8a-Related Epilepsy with Encephalopathy, also known as early infantile epileptic encephalopathy 13, is related to epileptic encephalopathy, early infantile, 13 and scn8a encephalopathy. An important gene associated with Scn8a-Related Epilepsy with Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include brain.

GeneReviews: NBK379665

Related Diseases for Scn8a-Related Epilepsy with Encephalopathy

Diseases related to Scn8a-Related Epilepsy with Encephalopathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 13 11.6
2 scn8a encephalopathy 10.9
3 epilepsy 10.1
4 encephalopathy 10.1

Symptoms & Phenotypes for Scn8a-Related Epilepsy with Encephalopathy

Drugs & Therapeutics for Scn8a-Related Epilepsy with Encephalopathy

Search Clinical Trials , NIH Clinical Center for Scn8a-Related Epilepsy with Encephalopathy

Genetic Tests for Scn8a-Related Epilepsy with Encephalopathy

Genetic tests related to Scn8a-Related Epilepsy with Encephalopathy:

# Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 13 28 SCN8A

Anatomical Context for Scn8a-Related Epilepsy with Encephalopathy

MalaCards organs/tissues related to Scn8a-Related Epilepsy with Encephalopathy:

38
Brain

Publications for Scn8a-Related Epilepsy with Encephalopathy

Articles related to Scn8a-Related Epilepsy with Encephalopathy:

# Title Authors Year
1
SCN8A-Related Epilepsy with Encephalopathy ( 27559564 )
1993

Variations for Scn8a-Related Epilepsy with Encephalopathy

ClinVar genetic disease variations for Scn8a-Related Epilepsy with Encephalopathy:

6 (show all 37)
# 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.3991C> G (p.Leu1331Val) single nucleotide variant Pathogenic rs397514738 GRCh37 Chromosome 12, 52180374: 52180374
3 SCN8A NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu) single nucleotide variant Pathogenic/Likely pathogenic rs587780454 GRCh37 Chromosome 12, 52188404: 52188404
4 SCN8A NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587780586 GRCh37 Chromosome 12, 52159459: 52159459
5 SCN8A NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 GRCh38 Chromosome 12, 51806336: 51806336
6 SCN8A NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 GRCh38 Chromosome 12, 51789397: 51789397
7 SCN8A NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 GRCh38 Chromosome 12, 51789396: 51789396
8 SCN8A NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 GRCh37 Chromosome 12, 52082594: 52082594
9 SCN8A NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 GRCh38 Chromosome 12, 51768915: 51768915
10 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh37 Chromosome 12, 52184197: 52184197
11 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
12 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh37 Chromosome 12, 52145307: 52145307
13 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh38 Chromosome 12, 51765801: 51765801
14 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh37 Chromosome 12, 52082556: 52082556
15 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh38 Chromosome 12, 51688784: 51688784
16 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh37 Chromosome 12, 52082570: 52082570
17 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh38 Chromosome 12, 51688790: 51688790
18 SCN8A NM_014191.3(SCN8A): c.779T> C (p.Phe260Ser) single nucleotide variant Pathogenic rs879255697 GRCh37 Chromosome 12, 52093426: 52093426
19 SCN8A NM_014191.3(SCN8A): c.1221G> C (p.Leu407Phe) single nucleotide variant Pathogenic rs879255698 GRCh38 Chromosome 12, 51705503: 51705503
20 SCN8A NM_014191.3(SCN8A): c.1228G> C (p.Val410Leu) single nucleotide variant Pathogenic rs879255699 GRCh37 Chromosome 12, 52099294: 52099294
21 SCN8A NM_014191.3(SCN8A): c.1588C> T (p.Arg530Trp) single nucleotide variant Pathogenic rs761336234 GRCh37 Chromosome 12, 52100452: 52100452
22 SCN8A NM_014191.3(SCN8A): c.2537T> C (p.Phe846Ser) single nucleotide variant Pathogenic rs879255700 GRCh38 Chromosome 12, 51762669: 51762669
23 SCN8A NM_014191.3(SCN8A): c.2624T> A (p.Leu875Gln) single nucleotide variant Pathogenic rs879255701 GRCh38 Chromosome 12, 51765750: 51765750
24 SCN8A NM_014191.3(SCN8A): c.2668G> A (p.Ala890Thr) single nucleotide variant Pathogenic rs879255702 GRCh38 Chromosome 12, 51765794: 51765794
25 SCN8A NM_014191.3(SCN8A): c.2879T> A (p.Val960Asp) single nucleotide variant Pathogenic rs879255703 GRCh38 Chromosome 12, 51766005: 51766005
26 SCN8A NM_014191.3(SCN8A): c.3979A> G (p.Ile1327Val) single nucleotide variant Pathogenic/Likely pathogenic rs879255704 GRCh37 Chromosome 12, 52180362: 52180362
27 SCN8A NM_014191.3(SCN8A): c.4787C> G (p.Ser1596Cys) single nucleotide variant Pathogenic rs879255705 GRCh37 Chromosome 12, 52188417: 52188417
28 SCN8A NM_014191.3(SCN8A): c.4862T> G (p.Leu1621Trp) single nucleotide variant Pathogenic rs879255707 GRCh38 Chromosome 12, 51806348: 51806348
29 SCN8A NM_014191.3(SCN8A): c.4873G> A (p.Gly1625Arg) single nucleotide variant Pathogenic rs879255708 GRCh37 Chromosome 12, 52200143: 52200143
30 SCN8A NM_014191.3(SCN8A): c.4948G> A (p.Ala1650Thr) single nucleotide variant Pathogenic rs879255709 GRCh38 Chromosome 12, 51806434: 51806434
31 SCN8A NM_014191.3(SCN8A): c.5401C> G (p.Gln1801Glu) single nucleotide variant Pathogenic rs879255710 GRCh38 Chromosome 12, 51806887: 51806887
32 SCN8A NM_014191.3(SCN8A): c.5610A> T (p.Glu1870Asp) single nucleotide variant Pathogenic rs879255711 GRCh38 Chromosome 12, 51807096: 51807096
33 SCN8A NM_014191.3(SCN8A): c.5615G> A (p.Arg1872Gln) single nucleotide variant Pathogenic rs796053229 GRCh38 Chromosome 12, 51807101: 51807101
34 SCN8A NM_014191.3(SCN8A): c.2003C> T (p.Thr668Ile) single nucleotide variant Pathogenic rs758253791 GRCh38 Chromosome 12, 51745907: 51745907
35 SCN8A NP_055006.1(SCN8A): p.Pro1428_Lys1473del protein only Pathogenic
36 SCN8A NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val) single nucleotide variant Pathogenic rs879255706 GRCh37 Chromosome 12, 52200083: 52200083
37 SCN8A NM_014191.3(SCN8A): c.4394A> T (p.Asp1465Val) single nucleotide variant Pathogenic rs1135401806 GRCh38 Chromosome 12, 51789393: 51789393

Expression for Scn8a-Related Epilepsy with Encephalopathy

Search GEO for disease gene expression data for Scn8a-Related Epilepsy with Encephalopathy.

Pathways for Scn8a-Related Epilepsy with Encephalopathy

GO Terms for Scn8a-Related Epilepsy with Encephalopathy

Sources for Scn8a-Related Epilepsy with Encephalopathy

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