MCID: SCN061
MIFTS: 13

Scn8a Encephalopathy

Categories: Rare diseases

Aliases & Classifications for Scn8a Encephalopathy

MalaCards integrated aliases for Scn8a Encephalopathy:

Name: Scn8a Encephalopathy 54
Epileptic Encephalopathy, Early Infantile, 13 54 74
Encephalopathy, Epileptic, Early Infantile, Type 13 41
Early Infantile Epileptic Encephalopathy-13 54
Scn8a Epilepsy 54
Eiee13 54

Classifications:



External Ids:

UMLS 74 C3281191

Summaries for Scn8a Encephalopathy

NIH Rare Diseases : 54 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 12.8
2 scn8a-related epilepsy with encephalopathy 11.7
3 encephalopathy 10.6
4 epilepsy 10.2

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:

42
Cortex

Publications for Scn8a Encephalopathy

Articles related to Scn8a Encephalopathy:

# Title Authors Year
1
Pharmacotherapy and electroencephalographic evolution in SCN8A encephalopathy: A case report. ( 31010614 )
2019
2
Prominent role of forebrain excitatory neurons in SCN8A encephalopathy. ( 30601941 )
2019
3
The novel sodium channel modulator GS-458967 (GS967) is an effective treatment in a mouse model of SCN8A encephalopathy. ( 29782051 )
2018
4
Phenytoin as a last-resort treatment in SCN8A encephalopathy. ( 29588963 )
2017
5
Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy. ( 28676574 )
2017
6
Altered gene expression profile in a mouse model of SCN8A encephalopathy. ( 27836728 )
2017
7
SCN8A encephalopathy: Research progress and prospects. ( 27270488 )
2016
8
The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin. ( 27375106 )
2016
9
Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers. ( 26553437 )
2016
10
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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