MCID: SCN061
MIFTS: 14

Scn8a Encephalopathy

Categories: Rare diseases

Aliases & Classifications for Scn8a Encephalopathy

MalaCards integrated aliases for Scn8a Encephalopathy:

Name: Scn8a Encephalopathy 53
Epileptic Encephalopathy, Early Infantile, 13 53 73
Early Infantile Epileptic Encephalopathy-13 53
Scn8a Epilepsy 53
Eiee13 53

Classifications:



External Ids:

UMLS 73 C3281191

Summaries for Scn8a Encephalopathy

NIH Rare Diseases : 53 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 epileptic encephalopathy, early infantile, 13 and scn8a-related epilepsy with encephalopathy. An important gene associated with Scn8a Encephalopathy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8). Affiliated tissues include cortex.

Related Diseases for Scn8a Encephalopathy

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

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 13 12.6
2 scn8a-related epilepsy with encephalopathy 11.1
3 encephalopathy 10.4
4 neuronitis 9.9
5 epilepsy 9.9

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



Diseases related to Scn8a Encephalopathy

Symptoms & Phenotypes for Scn8a Encephalopathy

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:

41
Cortex

Publications for Scn8a Encephalopathy

Articles related to Scn8a Encephalopathy:

# Title Authors Year
1
The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. ( 29782051 )
2018
2
Altered gene expression profile in a mouse model of SCN8A encephalopathy. ( 27836728 )
2017
3
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. ( 28676574 )
2017
4
SCN8A encephalopathy: Research progress and prospects. ( 27270488 )
2016
5
Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. ( 26553437 )
2016
6
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. ( 27375106 )
2016
7
The phenotypic spectrum of SCN8A encephalopathy. ( 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

Sources for Scn8a Encephalopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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