Publications
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability. Brain. 2023 ;146(8):3162-3171.
. A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy. Ann Clin Transl Neurol. 2019 ;6(8):1395-1406.
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