MCID: SCN009
MIFTS: 8

Scn1a-Related Seizure Disorders

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Scn1a-Related Seizure Disorders

MalaCards integrated aliases for Scn1a-Related Seizure Disorders:

Name: Scn1a-Related Seizure Disorders 52

Classifications:



Summaries for Scn1a-Related Seizure Disorders

NIH Rare Diseases : 52 SCN1A -related seizure disorders is a group of diseases that includes simple febrile seizures , generalized epilepsy with febrile seizures plus , Dravet syndrome , migrating partial seizures of infancy , and intractable childhood epilepsy with generalized tonic-clonic seizures , as well as some cases of Lennox-Gastaut syndrome , West syndrome (infantile spasms) and vaccine-related encephalopathy and seizures. Signs and symptoms can vary, even among members of the same family, and may include seizures related to fever, focal convulsions (convulsions that start in one area of the brain) or generalized convulsions that can not be controlled by medication. The diseases are caused by mutations in the SCN1A gene . Inheritance is autosomal dominant , but most cases happen in those without a family history (de novo ) . Treatment includes the use of antiepileptic medication and ketogenic diet .

MalaCards based summary : Scn1a-Related Seizure Disorders is related to epileptic encephalopathy, early infantile, 6 and generalized epilepsy with febrile seizures plus. Affiliated tissues include brain and testes.

Related Diseases for Scn1a-Related Seizure Disorders

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2
Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4
Seizures, Benign Familial Infantile, 5 Scn1a-Related Seizure Disorders

Diseases related to Scn1a-Related Seizure Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 11.7
2 generalized epilepsy with febrile seizures plus 10.2
3 genetic epilepsy with febrile seizures plus 10.2
4 febrile seizures 10.2

Symptoms & Phenotypes for Scn1a-Related Seizure Disorders

Drugs & Therapeutics for Scn1a-Related Seizure Disorders

Search Clinical Trials , NIH Clinical Center for Scn1a-Related Seizure Disorders

Genetic Tests for Scn1a-Related Seizure Disorders

Anatomical Context for Scn1a-Related Seizure Disorders

MalaCards organs/tissues related to Scn1a-Related Seizure Disorders:

40
Brain, Testes

Publications for Scn1a-Related Seizure Disorders

Articles related to Scn1a-Related Seizure Disorders:

# Title Authors PMID Year
1
Outcomes and comorbidities of SCN1A-related seizure disorders. 61
30527252 2019
2
SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome. 61
23653348 2013

Variations for Scn1a-Related Seizure Disorders

Expression for Scn1a-Related Seizure Disorders

Search GEO for disease gene expression data for Scn1a-Related Seizure Disorders.

Pathways for Scn1a-Related Seizure Disorders

GO Terms for Scn1a-Related Seizure Disorders

Sources for Scn1a-Related Seizure Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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