Monogenic hearing loss
Gene: ATP1A2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#104290:Alternating hemiplegia of childhood[Abnormal extraocular movementsNystagmusUpward eye deviation during episodes; Hemiplegia, episodicQuadriplegia, episodicCognitive decline, progressiveMental retardationDystoniaChoreoathetosisAutonomic involvement affecting limbs during episodesGeneralized tonic-clonic seizures in 50%Neurologic regression after prolonged episodesHeadache is usually not a symptom]; #602481:Migraine, familial hemiplegic, 2[Hemianopic blurring of vision; MigraineMigraine with auraHemiparesisHemiplegiaHemihypoasthesiaSeizures (less common)DrowsinessConfusionComa (less common)DysphasiaAphasiaUnusual aura symptoms include alien limb phenomenon, diplopia, apraxia, dysarthria, impaired hearing, vertigoDiffuse brain swelling occurs during comaIctal EEG shows diffuse slow delta and theta activityCerebellar signs during episodesCerebellar ataxia during episodesMental retardation (less common); Fever]
Publications
ATP1A2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen