(Q16909671)

English

generalized epilepsy with febrile seizures plus

idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset

GEFS+
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
Gefs+, Type 1
GEFSP1
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1

In more languages

Statements

0 references

class of disease

0 references

0 references

generalized epilepsy

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

health specialty

0 references

genetic association

3 references

UniProt protein ID

13 August 2019

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000105711/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

3 references

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000144285/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

2 references

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000113327/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000099365/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000164588/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

1 reference

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000187730/Orphanet_36387

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

tonic–clonic seizure

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

http://purl.obolibrary.org/obo/DOID_0060170

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0060170

1 reference

Identifiers.org

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_36387

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

Microsoft Academic ID

0 references

0 references

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

15 May 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

Disease Ontology

28 August 2019

Disease Ontology ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

1 reference

based on heuristic

inferred by common Orphanet mappings on source and on Wikidata

16 June 2023

WikiProjectMed ID

Generalized epilepsy with febrile seizures plus

0 references

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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