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ABSTRACT: Background
Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a disorder of GABA degradation with use-dependent downregulation of postsynaptic GABAA/B receptors. We aim to measure the resulting cortical excitation: inhibition ratio using transcranial magnetic stimulation.Methods
In this single-center observational study, 18 subjects with SSADHD and 8 healthy controls underwent transcranial magnetic stimulation. Resting motor threshold, cortical silent period, and long-interval intracortical inhibition were measured in both groups. Resting motor threshold in focal epilepsy patients from an institutional transcranial magnetic stimulation database were also included.Results
SSADHD subjects had higher resting motor threshold than healthy controls but
SUBMITTER: Tsuboyama M
PROVIDER: S-EPMC8630082 | biostudies-literature | 2021 Nov
REPOSITORIES: biostudies-literature