MCID: SCN060
MIFTS: 15

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 25
Early Infantile Epileptic Encephalopathy 13 25 29
Eiee13 23 25
Epileptic Encephalopathy, Early Infantile, 13 69
Early-Infantile Epileptic Encephalopathy 13 23
Scn8a Encephalopathy 25

Characteristics:

GeneReviews:

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

Summaries for Scn8a-Related Epilepsy with Encephalopathy

Genetics Home Reference : 25 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, and has symptoms including abnormal coordination 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:

id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 13 11.5
2 scn8a encephalopathy 10.8
3 epilepsy 10.0
4 encephalopathy 10.0

Symptoms & Phenotypes for Scn8a-Related Epilepsy with Encephalopathy

UMLS symptoms related to Scn8a-Related Epilepsy with Encephalopathy:


abnormal coordination

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:

id Genetic test Affiliating Genes
1 Early Infantile Epileptic Encephalopathy 13 29

Anatomical Context for Scn8a-Related Epilepsy with Encephalopathy

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

39
Brain

Publications for Scn8a-Related Epilepsy with Encephalopathy

Articles related to Scn8a-Related Epilepsy with Encephalopathy:

id 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 38)
id 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.4351G> A (p.Gly1451Ser) single nucleotide variant Pathogenic rs863223345 GRCh37 Chromosome 12, 52183134: 52183134
11 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh37 Chromosome 12, 52184197: 52184197
12 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
13 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh37 Chromosome 12, 52145307: 52145307
14 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh38 Chromosome 12, 51765801: 51765801
15 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh37 Chromosome 12, 52082556: 52082556
16 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh38 Chromosome 12, 51688784: 51688784
17 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh37 Chromosome 12, 52082570: 52082570
18 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh38 Chromosome 12, 51688790: 51688790
19 SCN8A NM_014191.3(SCN8A): c.779T> C (p.Phe260Ser) single nucleotide variant Pathogenic rs879255697 GRCh37 Chromosome 12, 52093426: 52093426
20 SCN8A NM_014191.3(SCN8A): c.1221G> C (p.Leu407Phe) single nucleotide variant Pathogenic rs879255698 GRCh38 Chromosome 12, 51705503: 51705503
21 SCN8A NM_014191.3(SCN8A): c.1228G> C (p.Val410Leu) single nucleotide variant Pathogenic rs879255699 GRCh37 Chromosome 12, 52099294: 52099294
22 SCN8A NM_014191.3(SCN8A): c.1588C> T (p.Arg530Trp) single nucleotide variant Pathogenic rs761336234 GRCh37 Chromosome 12, 52100452: 52100452
23 SCN8A NM_014191.3(SCN8A): c.2537T> C (p.Phe846Ser) single nucleotide variant Pathogenic rs879255700 GRCh38 Chromosome 12, 51762669: 51762669
24 SCN8A NM_014191.3(SCN8A): c.2624T> A (p.Leu875Gln) single nucleotide variant Pathogenic rs879255701 GRCh38 Chromosome 12, 51765750: 51765750
25 SCN8A NM_014191.3(SCN8A): c.2668G> A (p.Ala890Thr) single nucleotide variant Pathogenic rs879255702 GRCh38 Chromosome 12, 51765794: 51765794
26 SCN8A NM_014191.3(SCN8A): c.2879T> A (p.Val960Asp) single nucleotide variant Pathogenic rs879255703 GRCh38 Chromosome 12, 51766005: 51766005
27 SCN8A NM_014191.3(SCN8A): c.3979A> G (p.Ile1327Val) single nucleotide variant Pathogenic/Likely pathogenic rs879255704 GRCh37 Chromosome 12, 52180362: 52180362
28 SCN8A NM_014191.3(SCN8A): c.4787C> G (p.Ser1596Cys) single nucleotide variant Pathogenic rs879255705 GRCh37 Chromosome 12, 52188417: 52188417
29 SCN8A NM_014191.3(SCN8A): c.4862T> G (p.Leu1621Trp) single nucleotide variant Pathogenic rs879255707 GRCh38 Chromosome 12, 51806348: 51806348
30 SCN8A NM_014191.3(SCN8A): c.4873G> A (p.Gly1625Arg) single nucleotide variant Pathogenic rs879255708 GRCh37 Chromosome 12, 52200143: 52200143
31 SCN8A NM_014191.3(SCN8A): c.4948G> A (p.Ala1650Thr) single nucleotide variant Pathogenic rs879255709 GRCh38 Chromosome 12, 51806434: 51806434
32 SCN8A NM_014191.3(SCN8A): c.5401C> G (p.Gln1801Glu) single nucleotide variant Pathogenic rs879255710 GRCh38 Chromosome 12, 51806887: 51806887
33 SCN8A NM_014191.3(SCN8A): c.5610A> T (p.Glu1870Asp) single nucleotide variant Pathogenic rs879255711 GRCh38 Chromosome 12, 51807096: 51807096
34 SCN8A NM_014191.3(SCN8A): c.5615G> A (p.Arg1872Gln) single nucleotide variant Pathogenic rs796053229 GRCh38 Chromosome 12, 51807101: 51807101
35 SCN8A NM_014191.3(SCN8A): c.2003C> T (p.Thr668Ile) single nucleotide variant Pathogenic rs758253791 GRCh38 Chromosome 12, 51745907: 51745907
36 SCN8A NP_055006.1(SCN8A): p.Pro1428_Lys1473del protein only Pathogenic
37 SCN8A NM_014191.3(SCN8A): c.4813A> G (p.Ile1605Val) single nucleotide variant Pathogenic rs879255706 GRCh37 Chromosome 12, 52200083: 52200083
38 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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