KCNT1

potassium sodium-activated channel subfamily T member 1
OMIM: 608167
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY 614959, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY
R-numbers: R59
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 14, Epilepsy, nocturnal frontal lobe, 5, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY, SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epileptic encephalopathy, early infantile, 14, 614959Epilepsy, nocturnal frontal lobe, 5, 615005, MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY