DisGeNET - a database of gene-disease associations

SCN8A, sodium voltage-gated channel alpha subunit 8, 6334

N. diseases: 302; N. variants: 70

Disease: SCN8A-related epilepsy with encephalopathy ×

Variant: rs796053228 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs796053228

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C3281191
Disease:

SCN8A-related epilepsy with encephalopathy

0.700

CausalMutation

CLINVAR

The phenotypic spectrum of SCN8A encephalopathy.

25568300

2015

dbSNP:

rs796053228

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C3281191
Disease:

SCN8A-related epilepsy with encephalopathy

0.700

CausalMutation

CLINVAR

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

25951352

2015

dbSNP:

rs796053228

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C3281191
Disease:

SCN8A-related epilepsy with encephalopathy

0.700

CausalMutation

CLINVAR

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

24888894

2014