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 24 25
Early Infantile Epileptic Encephalopathy 13 25 29 6
Eiee13 24 25
Encephalopathy, Epileptic, Early Infantile, Type 13 40
Epileptic Encephalopathy, Early Infantile, 13 73
Early-Infantile Epileptic Encephalopathy 13 24
Scn8a Encephalopathy 25

Characteristics:

GeneReviews:

24
Penetrance Penetrance for scn8a-related epilepsy with encephalopathy is unknown but assumed to be complete...

External Ids:

UMLS 73 C3281191

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. 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 29 SCN8A

Anatomical Context for Scn8a-Related Epilepsy with Encephalopathy

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

41
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 top 50) (show all 95)
# 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.4774G> C (p.Val1592Leu) single nucleotide variant Likely pathogenic rs587780454 GRCh37 Chromosome 12, 52188404: 52188404
6 SCN8A NM_014191.3(SCN8A): c.4774G> C (p.Val1592Leu) single nucleotide variant Likely pathogenic rs587780454 GRCh38 Chromosome 12, 51794620: 51794620
7 SCN8A NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587780586 GRCh37 Chromosome 12, 52159459: 52159459
8 SCN8A NM_014191.3(SCN8A): c.2549G> A (p.Arg850Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587780586 GRCh38 Chromosome 12, 51765675: 51765675
9 SCN8A NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 GRCh38 Chromosome 12, 51806336: 51806336
10 SCN8A NM_014191.3(SCN8A): c.4850G> A (p.Arg1617Gln) single nucleotide variant Pathogenic rs587777721 GRCh37 Chromosome 12, 52200120: 52200120
11 SCN8A NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 GRCh38 Chromosome 12, 51789397: 51789397
12 SCN8A NM_014191.3(SCN8A): c.4398C> A (p.Asn1466Lys) single nucleotide variant Pathogenic rs587777722 GRCh37 Chromosome 12, 52183181: 52183181
13 SCN8A NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 GRCh38 Chromosome 12, 51789396: 51789396
14 SCN8A NM_014191.3(SCN8A): c.4397A> C (p.Asn1466Thr) single nucleotide variant Pathogenic rs587777723 GRCh37 Chromosome 12, 52183180: 52183180
15 SCN8A NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 GRCh37 Chromosome 12, 52082594: 52082594
16 SCN8A NM_014191.3(SCN8A): c.667A> G (p.Arg223Gly) single nucleotide variant Pathogenic rs672601319 GRCh38 Chromosome 12, 51688810: 51688810
17 SCN8A NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 GRCh38 Chromosome 12, 51768915: 51768915
18 SCN8A NM_014191.3(SCN8A): c.2952C> G (p.Asn984Lys) single nucleotide variant Pathogenic rs876657399 GRCh37 Chromosome 12, 52162699: 52162699
19 SCN8A NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser) single nucleotide variant Uncertain significance rs863223345 GRCh37 Chromosome 12, 52183134: 52183134
20 SCN8A NM_014191.3(SCN8A): c.4351G> A (p.Gly1451Ser) single nucleotide variant Uncertain significance rs863223345 GRCh38 Chromosome 12, 51789350: 51789350
21 SCN8A NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp) single nucleotide variant Likely pathogenic rs794727362 GRCh37 Chromosome 12, 52180368: 52180368
22 SCN8A NM_014191.3(SCN8A): c.3985A> G (p.Asn1329Asp) single nucleotide variant Likely pathogenic rs794727362 GRCh38 Chromosome 12, 51786584: 51786584
23 SCN8A NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs796053216 GRCh37 Chromosome 12, 52184185: 52184185
24 SCN8A NM_014191.3(SCN8A): c.4423G> A (p.Gly1475Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs796053216 GRCh38 Chromosome 12, 51790401: 51790401
25 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh37 Chromosome 12, 52184197: 52184197
26 SCN8A NM_014191.3(SCN8A): c.4435A> G (p.Ile1479Val) single nucleotide variant Pathogenic rs796053217 GRCh38 Chromosome 12, 51790413: 51790413
27 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh38 Chromosome 12, 51807100: 51807100
28 SCN8A NM_014191.3(SCN8A): c.5614C> T (p.Arg1872Trp) single nucleotide variant Pathogenic/Likely pathogenic rs796053228 GRCh37 Chromosome 12, 52200884: 52200884
29 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh37 Chromosome 12, 52145307: 52145307
30 SCN8A NM_014191.3(SCN8A): c.2300C> T (p.Thr767Ile) single nucleotide variant Pathogenic rs797045013 GRCh38 Chromosome 12, 51751523: 51751523
31 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh38 Chromosome 12, 51765801: 51765801
32 SCN8A NM_014191.3(SCN8A): c.2675T> G (p.Val892Gly) single nucleotide variant Pathogenic rs863225295 GRCh37 Chromosome 12, 52159585: 52159585
33 SCN8A NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser) single nucleotide variant Likely pathogenic rs869312690 GRCh37 Chromosome 12, 52200546: 52200546
34 SCN8A NM_014191.3(SCN8A): c.5276A> G (p.Asn1759Ser) single nucleotide variant Likely pathogenic rs869312690 GRCh38 Chromosome 12, 51806762: 51806762
35 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh37 Chromosome 12, 52082556: 52082556
36 SCN8A NM_014191.3(SCN8A): c.629T> C (p.Phe210Leu) single nucleotide variant Pathogenic rs879255693 GRCh38 Chromosome 12, 51688772: 51688772
37 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh38 Chromosome 12, 51688784: 51688784
38 SCN8A NM_014191.3(SCN8A): c.641G> A (p.Gly214Asp) single nucleotide variant Pathogenic rs879255694 GRCh37 Chromosome 12, 52082568: 52082568
39 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh37 Chromosome 12, 52082570: 52082570
40 SCN8A NM_014191.3(SCN8A): c.643A> G (p.Asn215Arg) single nucleotide variant Pathogenic rs879255695 GRCh38 Chromosome 12, 51688786: 51688786
41 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh38 Chromosome 12, 51688790: 51688790
42 SCN8A NM_014191.3(SCN8A): c.647T> A (p.Val216Asp) single nucleotide variant Pathogenic rs879255696 GRCh37 Chromosome 12, 52082574: 52082574
43 SCN8A NM_014191.3(SCN8A): c.779T> C (p.Phe260Ser) single nucleotide variant Pathogenic rs879255697 GRCh37 Chromosome 12, 52093426: 52093426
44 SCN8A NM_014191.3(SCN8A): c.779T> C (p.Phe260Ser) single nucleotide variant Pathogenic rs879255697 GRCh38 Chromosome 12, 51699642: 51699642
45 SCN8A NM_014191.3(SCN8A): c.1221G> C (p.Leu407Phe) single nucleotide variant Pathogenic rs879255698 GRCh38 Chromosome 12, 51705503: 51705503
46 SCN8A NM_014191.3(SCN8A): c.1221G> C (p.Leu407Phe) single nucleotide variant Pathogenic rs879255698 GRCh37 Chromosome 12, 52099287: 52099287
47 SCN8A NM_014191.3(SCN8A): c.1228G> C (p.Val410Leu) single nucleotide variant Pathogenic rs879255699 GRCh37 Chromosome 12, 52099294: 52099294
48 SCN8A NM_014191.3(SCN8A): c.1228G> C (p.Val410Leu) single nucleotide variant Pathogenic rs879255699 GRCh38 Chromosome 12, 51705510: 51705510
49 SCN8A NM_014191.3(SCN8A): c.1588C> T (p.Arg530Trp) single nucleotide variant Uncertain significance rs761336234 GRCh37 Chromosome 12, 52100452: 52100452
50 SCN8A NM_014191.3(SCN8A): c.1588C> T (p.Arg530Trp) single nucleotide variant Uncertain significance rs761336234 GRCh38 Chromosome 12, 51706668: 51706668

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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