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Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation Volume 22, numéro 1, February 2020

TEST YOURSELF

(1) What syndromes have been associated with ATP1A3 mutations?

 

(2) What are the clinical criteria required to diagnose alternating hemiplegia of childhood?

 

(3) What does the ATP1A3 gene code for?

 

 

 

 

 

 

 

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Answers

(1) Mutations in ATP1A3 have been found in rapid-onset dystonia Parkinsonism (RDP), alternating hemiplegia of childhood (AHC), cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS) syndrome, relapsing encephalopathy with cerebellar ataxia (RECA), as well as rare cases of epileptic encephalopathy (EE), childhood schizophrenia, and autism.

 

(2) Onset prior to 18 months of age, recurrent attacks of hemiplegia, dystonia, paroxysmal attacks of oculomotor abnormalities, episodes of bilateral hemiplegia, resolution of symptoms with sleep, and permanent neurologic impairments.

 

(3) Na+/K+-ATPases are membrane-bound transporters that establish the sodium/potassium ionic gradient across the plasma membrane. Na+/K+-ATPases consist of α, β, and γ subunits. The α3 subunit, encoded by ATP1A3, is the predominant α subunit in neurons, α2 is glial, and α1 is in both neurons and glia.

 

 

 

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