MCID: SCN061
MIFTS: 18

Scn8a Encephalopathy

Categories: Rare diseases

Aliases & Classifications for Scn8a Encephalopathy

MalaCards integrated aliases for Scn8a Encephalopathy:

Name: Scn8a Encephalopathy 20
Epileptic Encephalopathy, Early Infantile, 13 20 70
Early Infantile Epileptic Encephalopathy-13 20
Scn8a Epilepsy 20
Eiee13 20

Classifications:



External Ids:

UMLS 70 C3281191

Summaries for Scn8a Encephalopathy

GARD : 20 SCN8A encephalopathy is a very rare form of early-onset epilepsy that causes multiple types of seizures and developmental delay or regression (loss of skills). Seizures begin during the first 18 months of life, at an average age of 4 months. Types of seizures may include generalized tonic-clonic seizures, infantile spasms, absence seizures, and focal seizures. Other signs and symptoms of SCN8A encephalopathy may include low muscle tone ( hypotonia ), a high pain tolerance, movement disorders (such as dystonia and ataxia ), mild to severe intellectual disability, sleep problems, and autistic-like features. In some people with SCN8A encephalopathy, various other medical problems have been reported including hearing or vision problems, scoliosis, and difficulty regulating body temperature. About 10% of people with SCN8A encephalopathy reported in the literature have died from sudden unexpected death in epilepsy (SUDEP). SCN8A encephalopathy is caused by mutations in the SCN8A gene. Inheritance is autosomal dominant, but most people with SCN8A encephalopathy have a new mutation in the gene that was not inherited from a parent. Treatment aims to control seizures with medications, which is extremely challenging. Seizure control should be managed by a pediatric neurologist with expertise in epilepsy who is familiar with SCN8A encephalopathy.

MalaCards based summary : Scn8a Encephalopathy, also known as epileptic encephalopathy, early infantile, 13, is related to early infantile epileptic encephalopathy and dravet syndrome. An important gene associated with Scn8a Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include cortex, and related phenotype is Decreased nuclei size in G2M.

Related Diseases for Scn8a Encephalopathy

Graphical network of the top 20 diseases related to Scn8a Encephalopathy:



Diseases related to Scn8a Encephalopathy

Symptoms & Phenotypes for Scn8a Encephalopathy

GenomeRNAi Phenotypes related to Scn8a Encephalopathy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased nuclei size in G2M GR00096-A 8.62 GABRA2 SCN8A

Drugs & Therapeutics for Scn8a Encephalopathy

Search Clinical Trials , NIH Clinical Center for Scn8a Encephalopathy

Genetic Tests for Scn8a Encephalopathy

Anatomical Context for Scn8a Encephalopathy

MalaCards organs/tissues related to Scn8a Encephalopathy:

40
Cortex

Publications for Scn8a Encephalopathy

Articles related to Scn8a Encephalopathy:

(show all 17)
# Title Authors PMID Year
1
Adrenergic Mechanisms of Audiogenic Seizure-Induced Death in a Mouse Model of SCN8A Encephalopathy. 61
33762902 2021
2
Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse. 61
33140451 2020
3
Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome. 61
31943325 2020
4
SCN8A encephalopathy: Mechanisms and models. 61
31904118 2019
5
SCN8A Mutation in Infantile Epileptic Encephalopathy: Report of Two Cases. 61
32509551 2019
6
Pharmacotherapy and electroencephalographic evolution in SCN8A encephalopathy: A case report. 61
31010614 2019
7
SCN8A: When Neurons Are So Excited, They Just Can't Hide It. 61
31288536 2019
8
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. 61
30601941 2019
9
Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy. 61
30078772 2018
10
The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. 61
29782051 2018
11
Phenytoin as a last-resort treatment in SCN8A encephalopathy. 61
29588963 2017
12
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. 61
28676574 2017
13
Altered gene expression profile in a mouse model of SCN8A encephalopathy. 61
27836728 2017
14
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. 61
27375106 2016
15
SCN8A encephalopathy: Research progress and prospects. 61
27270488 2016
16
Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. 61
26553437 2016
17
The phenotypic spectrum of SCN8A encephalopathy. 61
25568300 2015

Variations for Scn8a Encephalopathy

Expression for Scn8a Encephalopathy

Search GEO for disease gene expression data for Scn8a Encephalopathy.

Pathways for Scn8a Encephalopathy

GO Terms for Scn8a Encephalopathy

Cellular components related to Scn8a Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.26 SCN8A GABRA2
2 cell junction GO:0030054 9.16 SCN8A GABRA2
3 cytoplasmic vesicle GO:0031410 8.96 SCN8A GABRA2
4 axon GO:0030424 8.62 SCN8A GABRA2

Biological processes related to Scn8a Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 8.96 SCN8A GABRA2
2 ion transmembrane transport GO:0034220 8.62 SCN8A GABRA2

Molecular functions related to Scn8a Encephalopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 8.62 SCN8A GABRA2

Sources for Scn8a Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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