SCN8A - Gene browser

SCN8A

sodium voltage-gated channel alpha subunit 8

HCNC Approved Symbol: SCN8A (HGNC:10596)
Genomic Coordinates: 12:51,591,233 - 51,812,864 (12q13.13)
Synonyms: Nav1.6, NaCh6, PN4, CerIII, CIAT, MED
Disease Associations: This gene is associated with the following 4 diseases in OMIM.

Diagnosed Cases

37Patients

In total, 37 patients were diagnosed with a variant in the SCN8A gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

037
Patient count

Global developmental delay: 14 (37.8%)
Patient Count: 14 (37.8%)
% of total patients presenting each phenotype is shown in parentheses.
14 (37.8%)
Seizures: 10 (27.0%)
Patient Count: 10 (27.0%)
% of total patients presenting each phenotype is shown in parentheses.
10 (27.0%)
Epilepsy: 9 (24.3%)
Patient Count: 9 (24.3%)
% of total patients presenting each phenotype is shown in parentheses.
9 (24.3%)
Intellectual disability: 7 (18.9%)
Patient Count: 7 (18.9%)
% of total patients presenting each phenotype is shown in parentheses.
7 (18.9%)
Abnormal facial shape: 4 (10.8%)
Patient Count: 4 (10.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (10.8%)