Epileptic encephalopathy
Gene: KCNT1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: A confirmed DD gene for malignant migrating partial seizures of infancy and severe autosomal dominant noctural frontal lobe epilepsy, and all reviewers agree this should be green on this panel. Activating variants cause malignant migrating partial seizures of infancy, and missense/in frame variants severe autosomal dominant noctural frontal lobe epilepsy.Created: 20 Jan 2016, 12:45 p.m.
Comment on phenotypes: Sourced from reviewers, OMIM and G2P.Created: 20 Jan 2016, 12:36 p.m.
Comment on mode of inheritance: Monoallelic confirmed for both phenotypes on G2P and OMIM. Not on the imprinted gene list.Created: 20 Jan 2016, 12:34 p.m.
This gene has been classified as Green List (High Evidence).
Phenotypes for KCNT1 were set to Epileptic encephalopathy, early infantile, 14; Epilepsy, nocturnal frontal lobe, 5; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Publications for KCNT1 were set to Barcia at al (2012) Nature Genet 44(11): 1255-1261; Heron et al (2012) Nature Genet 44(11): 1188-1190
Mode of inheritance for KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
The Gel status was updated for this whole panel
The Gel status was updated for this whole panel
KCNT1 was added to Epileptic encephalopathypanel. Sources: Expert Review Green
Model of inheritance for gene KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Model of inheritance for gene KCNT1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
KCNT1 was added to Epileptic encephalopathypanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert