Epileptic encephalopathy
Gene: CHRNA2Variants in CHRNA2 do not appear to be associated with autosomal dominant nocturnal frontal lobe epilepsy in Chinese population.Created: 11 Dec 2017, 3:06 p.m.
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Discussion amoungst reviewers by email concluded that this should be rated red. In gene2phenotype it is a possible DD gene, associated with autosomal dominant nocturnal frontal lobe epilepsy.Created: 17 Dec 2015, 3:19 p.m.
Comment on mode of inheritance: Checked the imprinted gene list.Created: 17 Dec 2015, 3:14 p.m.
Causes a different seizure phenotypeCreated: 16 Dec 2015, 10:24 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epilepsy, nocturnal frontal lobe, type 4
Publications
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Red List (Low Evidence).
Publications for CHRNA2 were set to Aridon et al (2006) Am J Hum Genet 79: 342-350
This gene has been classified as Red List (Low Evidence).
Phenotypes for CHRNA2 were set to Epilepsy, nocturnal frontal lobe, type 4
Mode of inheritance for CHRNA2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
CHRNA2 was added to Epileptic encephalopathypanel. Source: Expert Review Green
The Gel status was updated for this whole panel
CHRNA2 was added to Epileptic encephalopathypanel. Sources: Expert