Genetic presumed genetic epilepsy etiology type

General Details:

Name:
Genetic presumed genetic epilepsy etiology type
Steward:
NINDS
Definition:
The categorization for genetic or presumed genetic etiology of epilepsy
Registration Status:
Qualified

Permissible Values:

Value Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
Idiopathic generalized with known syndrome Idiopathic generalized with known syndrome Idiopathic generalized with known syndrome (childhood and juvenile absence epilepsy, juvenile myoclonic epilepsy, generalized GTCS alone)
Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome Other generalized epilepsy known or presumed to be genetic but not meeting criteria for an idiopathic generalized epilepsy syndrome (e.g., Doose Syndrome)
Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation Known genetic mutation with or without developmental /epileptic encephalopathy or known disease/syndrome linked to genetic mutation Known genetic mutation with or without developmental /epileptic encephalopathy (e.g., CDKL5) or known disease/syndrome linked to genetic mutation (e.g., Dravet syndrome)
Focal epilepsy with or without a known proven mutation Focal epilepsy with or without a known proven mutation Focal epilepsy with or without a known proven mutation (e.g., LGI1, ADNFL)
Genetic epilepsies not otherwise specified Genetic epilepsies not otherwise specified Genetic epilepsies not otherwise specified

Designations:

Designation:
Genetic presumed genetic epilepsy etiology type
Tags:
Designation:
Genetic or presumed genetic
Tags:
Question Text

Designations:

Definition:
The categorization for genetic or presumed genetic etiology of epilepsy
Tags:

Reference Documents:

ID:
Title:
URI:
Provider Org:
Language Code:
Document:
Berg AT, Berkovic SF, Brodie MJ, Buchhalter J, Cross JH, van Emde Boas W, Engel J, French J, Glauser TA, Mathern GW, MoshÉ SL, Nordli D, Plouin P, Scheffer IE. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia. 2010;51(4):676–685. https://onlinelibrary.wiley.com/doi/full/10.1111/j.1528-1167.2010.02522.x

Identifiers:

Source:
NLM
Id:
QyW4tj_T6U
Version:
1.0
Source:
NINDS
Id:
C58582
Version:
1
Source:
BRICS Variable Name
Id:
GeneticPresumeGenEpilEtioTyp
Version: