DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 ×

Gene: SCN8A ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

GeneticVariation

CLINVAR

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy.

29121005

2018

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.

27779742

2017

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Unexplained Early Infantile Epileptic Encephalopathy in Han Chinese Children: Next-Generation Sequencing and Phenotype Enriching.

28387369

2017

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?

26647175

2016

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

26900580

2016

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

The phenotypic spectrum of SCN8A encephalopathy.

25568300

2015

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

26029160

2015

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

25951352

2015

Entrez Id:	6334
Gene Symbol:	SCN8A

SCN8A

CUI:	C4014430
Disease:	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21

0.100

CausalMutation

CLINVAR

Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

24888894

2014