MCID: SCN063
MIFTS: 11

Scn2a Related Disorders

Categories: Rare diseases

Aliases & Classifications for Scn2a Related Disorders

MalaCards integrated aliases for Scn2a Related Disorders:

Name: Scn2a Related Disorders 53
Scn2a Related Conditions 53
Scn2a-Related Disorders 53
Scn2a-Related Condition 6
Scn2a-Related Epilepsy 53
Scn2a Disorders 53
Scn2a Mutations 53
Scn2a Mutation 53

Classifications:



Summaries for Scn2a Related Disorders

NIH Rare Diseases : 53 SCN2A related disorders are a group of epilepsy and neurodevelopmental disorders, each caused by changes (mutations) in a gene called SCN2A. These disorders range from mild to severe and primarily include:Infantile epileptic encephalopathy (IEE) - characterized by seizures beginning in infancy (before 12 months of age) followed by developmental delay. Benign (familial) infantile seizures (BISs) - characterized by seizures beginning in infancy that stop by 2 years of age, without major long-term effects. Autism spectrum disorder/intellectual disability (ASD/ID) - characterized by global developmental delay (particularly of social and language skills). Up to a third of children with ASD/ID may also develop seizures in childhood, around of after 12 months of age. Signs and symptoms depend on the specific condition and severity in each person. Some children with an SCN2A related disorder do not fit directly into one of these major forms. Most children with SCN2A mutations will have seizures that start in the first few weeks of life. Other symptoms of an SCN2A related disorder may include feeding or gastrointestinal problems, developmental delay, movement disorders, and/or poor muscle tone (hypotonia). SCN2A mutations may be inherited from a parent or may occur for the first time in a child with an SCN2A related disorder (a de novo mutation). Treatment depends on symptoms and severity, but often includes antiepileptic drugs (AEDs). Unfortunately, in many cases, seizures associated with SCN2A related disorders cannot be controlled, even with the use of multiple AEDs. However, for infants who begin to have seizures within 3 months of birth, nonselective sodium channel blockers (such as phenytoin and carbamazepine) are more effective. Treatment for global developmental delay, ASD, and other associated signs and symptoms follow standard management recommendations.     

MalaCards based summary : Scn2a Related Disorders, also known as scn2a related conditions, is related to infantile epileptic encephalopathy and episodic ataxia. An important gene associated with Scn2a Related Disorders is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2).

Related Diseases for Scn2a Related Disorders

Diseases related to Scn2a Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 infantile epileptic encephalopathy 10.0
2 episodic ataxia 9.9
3 myoclonus 9.7
4 3-methylglutaconic aciduria, type iii 9.7
5 seizures, benign familial infantile, 3 9.7
6 alacrima, achalasia, and mental retardation syndrome 9.7
7 epilepsy 9.7
8 encephalopathy 9.7
9 hypotonia 9.7

Graphical network of the top 20 diseases related to Scn2a Related Disorders:



Diseases related to Scn2a Related Disorders

Symptoms & Phenotypes for Scn2a Related Disorders

Drugs & Therapeutics for Scn2a Related Disorders

Search Clinical Trials , NIH Clinical Center for Scn2a Related Disorders

Genetic Tests for Scn2a Related Disorders

Anatomical Context for Scn2a Related Disorders

Publications for Scn2a Related Disorders

Articles related to Scn2a Related Disorders:

# Title Authors Year
1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. ( 28379373 )
2017

Variations for Scn2a Related Disorders

ClinVar genetic disease variations for Scn2a Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh37 Chromosome 2, 166166923: 166166923
2 SCN2A NM_021007.2(SCN2A): c.788C> T (p.Ala263Val) single nucleotide variant Pathogenic rs387906686 GRCh38 Chromosome 2, 165310413: 165310413

Expression for Scn2a Related Disorders

Search GEO for disease gene expression data for Scn2a Related Disorders.

Pathways for Scn2a Related Disorders

GO Terms for Scn2a Related Disorders

Sources for Scn2a Related Disorders

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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28 GO
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