Intracerebral calcification disorders
Gene: SCN2A
SCN2A (sodium voltage-gated channel alpha subunit 2)
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000136531
EnsemblGeneIds (GRCh37): ENSG00000136531
OMIM: 182390, Gene2Phenotype
SCN2A is in 7 panels
1 review
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Variants in SCN2A are associated with a range of phenotypes from benign infantile seizures to early infantile epileptic encephalopathy. Intracerebral calcification has been noted in one case in the literature (PMID:24579881) and I have encountered a second case in my clinical practice.
Sources: LiteratureCreated: 18 Sep 2018, 9:23 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3
Publications
- PMID:24579881
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- Epileptic encephalopathy, early infantile, 11
- Seizures, benign familial infantile, 3
- OMIM
- 182390
- Clinvar variants
- Variants in SCN2A
- Penetrance
- None
- Publications
-
- PMID:24579881
- Panels with this gene
History Filter Activity
18 Sep 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)gene: SCN2A was added gene: SCN2A was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: SCN2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN2A were set to PMID:24579881 Phenotypes for gene: SCN2A were set to Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3 Review for gene: SCN2A was set to RED