MCID: SCN063
MIFTS: 14

Scn2a Related Disorders

Categories: Rare diseases

Aliases & Classifications for Scn2a Related Disorders

MalaCards integrated aliases for Scn2a Related Disorders:

Name: Scn2a Related Disorders 20
Scn2a Related Conditions 20
Scn2a-Related Disorders 20
Scn2a-Related Condition 6
Scn2a-Related Epilepsy 20
Scn2a-Related Disorder 6
Scn2a Disorders 20
Scn2a Mutations 20
Scn2a Mutation 20

Classifications:



Summaries for Scn2a Related Disorders

GARD : 20 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 seizure disorder and alacrima, achalasia, and mental retardation syndrome. 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:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 seizure disorder 10.4
2 alacrima, achalasia, and mental retardation syndrome 10.1
3 encephalopathy 10.1
4 infantile epilepsy syndrome 10.1
5 febrile seizures 10.1
6 dravet syndrome 10.0
7 autism spectrum disorder 10.0
8 hypotonia 10.0
9 myoclonus 10.0
10 generalized epilepsy with febrile seizures plus 10.0
11 ataxia and polyneuropathy, adult-onset 10.0
12 seizures, benign familial infantile, 3 10.0
13 developmental and epileptic encephalopathy 11 10.0
14 myoclonic-atonic epilepsy 10.0
15 chorea, childhood-onset, with psychomotor retardation 10.0
16 episodic ataxia, type 9 10.0
17 agenesis of corpus callosum, cardiac, ocular, and genital syndrome 10.0
18 west syndrome 10.0
19 early infantile epileptic encephalopathy 10.0
20 benign familial infantile epilepsy 10.0
21 choreatic disease 10.0
22 status epilepticus 10.0
23 epilepsy 10.0
24 movement disease 10.0
25 episodic ataxia 10.0
26 slc12a5-related epilepsy of infancy with migrating focal seizures 10.0
27 ohtahara syndrome 10.0
28 3-methylglutaconic aciduria, type iii 9.9
29 polymicrogyria with or without vascular-type ehlers-danlos syndrome 9.9
30 hereditary ataxia 9.9
31 developmental and epileptic encephalopathy 9.9
32 mumps 9.9
33 microcephaly 9.9
34 hemiplegia 9.9
35 central nervous system origin vertigo 9.9
36 dystonia 9.9
37 measles 9.9
38 chickenpox 9.9
39 rubella 9.9
40 kcnq2-related disorders 9.9
41 kcnq3-related disorders 9.9
42 polymicrogyria 9.9
43 agyria pachygyria polymicrogyria 9.9
44 bronchopulmonary dysplasia 9.9
45 pachygyria 9.9
46 neuronal migration disorders 9.9
47 hereditary episodic ataxia 9.9
48 genetic epilepsy with febrile seizures plus 9.9

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 PMID Year
1
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 20 61
28379373 2017
2
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders. 61
33731876 2021
3
The phenotypic spectrum of SCN2A-related epilepsy. 61
31924505 2020
4
Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond. 61
31904126 2019
5
SCN2A channelopathies: Mechanisms and models. 61
31904120 2019
6
[Phenotype study of SCN2A gene related epilepsy]. 61
29996185 2018
7
Progress in Understanding and Treating SCN2A-Mediated Disorders. 61
29691040 2018
8
Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. 61
24710820 2014

Variations for Scn2a Related Disorders

ClinVar genetic disease variations for Scn2a Related Disorders:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SCN2A NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) SNV Pathogenic 29888 rs387906686 GRCh37: 2:166166923-166166923
GRCh38: 2:165310413-165310413
2 SCN2A NM_001040142.2(SCN2A):c.4727del (p.Gly1576fs) Deletion not provided 545912 rs1553463096 GRCh37: 2:166243430-166243430
GRCh38: 2:165386920-165386920
3 SCN2A NM_001040142.2(SCN2A):c.4591C>T (p.Gln1531Ter) SNV not provided 489345 rs1553463032 GRCh37: 2:166243295-166243295
GRCh38: 2:165386785-165386785

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
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
Content
Loading form....