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Objective
Pathogenic variants in SCN3A, encoding the voltage‐gated sodium channel subunit Nav1.3, cause severe childhood onset epilepsy and malformation of cortical development. Here, we define the spectrum of clinical, genetic, and neuroimaging features of SCN3A‐related neurodevelopmental disorder.
Methods
Patients were ascertained via an international collaborative network. We compared sodium...
Objective
We hypothesized that specific mutations in the β‐glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non‐neuropathic GD mutations confer intermediate progression rates.
Methods
A total of 2,304 patients with PD and 20,868 longitudinal visits for up to 12...
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