DISEASE: Cognitive impairment with or without cerebellar ataxia
Entry
H02980 Disease
Name
Cognitive impairment with or without cerebellar ataxia
Description
Cognitive impairment with or without cerebellar ataxia (CIAT) is a rare genetic neurological disorder characterized by motor and cognitive deficits of variable expressivity. This disease is caused by mutations of the SCN8A gene, which encodes the voltage-gated sodium channel Nav1.6.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders with neurocognitive impairment as a major feature
8A2Y Other specified disorders with neurocognitive impairment as a major feature
H02980 Cognitive impairment with or without cerebellar ataxia
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H02980 Cognitive impairment with or without cerebellar ataxia
