SCN1A - Gene browser

SCN1A

sodium voltage-gated channel alpha subunit 1

HCNC Approved Symbol: SCN1A (HGNC:10585)
Genomic Coordinates: 2:165,984,641 - 166,149,161 (2q24.3)
Synonyms: Nav1.1, GEFSP2, HBSCI, NAC1, SMEI, SCN1, FEB3
Disease Associations: This gene is associated with the following 5 diseases in OMIM.

Diagnosed Cases

87Patients

In total, 87 patients were diagnosed with a variant in the SCN1A gene.

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

087
Patient count

Epilepsy: 34 (39.1%)
Patient Count: 34 (39.1%)
% of total patients presenting each phenotype is shown in parentheses.
34 (39.1%)
Seizures: 23 (26.4%)
Patient Count: 23 (26.4%)
% of total patients presenting each phenotype is shown in parentheses.
23 (26.4%)
Developmental delay: 16 (18.4%)
Patient Count: 16 (18.4%)
% of total patients presenting each phenotype is shown in parentheses.
16 (18.4%)
Global developmental delay: 15 (17.2%)
Patient Count: 15 (17.2%)
% of total patients presenting each phenotype is shown in parentheses.
15 (17.2%)
Intellectual disability: 10 (11.5%)
Patient Count: 10 (11.5%)
% of total patients presenting each phenotype is shown in parentheses.
10 (11.5%)