Abstract:
OBJECTIVE:Dravet syndrome is a rare neurodevelopmental disorder characterized by seizures and other neurologic problems. SCN1A mutations account for ∼80% of cases. Animal studies have implicated mutation-related dysregulated cortical inhibitory networks in its pathophysiology. We investigated such networks in people with the condition. METHODS:Transcranial magnetic stimulation using single and paired pulse paradigms was applied to people with Dravet syndrome and to 2 control groups to study motor cortex excitability. RESULTS:Short interval intracortical inhibition (SICI), which measures GABAergic inhibitory network behavior, was undetectable in Dravet syndrome, but detectable in all controls. Other paradigms, including those testing excitatory networks, showed no difference between Dravet and control groups. CONCLUSIONS:There were marked differences in inhibitory networks, detected using SICI paradigms, while other inhibitory and excitatory paradigms yielded normal results. These human data showing reduced GABAergic inhibition in vivo in people with Dravet syndrome support established animal models.
journal_name
Neurologyjournal_title
Neurologyauthors
Stern WM,Sander JW,Rothwell JC,Sisodiya SMdoi
10.1212/WNL.0000000000003868subject
Has Abstractpub_date
2017-04-25 00:00:00pages
1659-1665issue
17eissn
0028-3878issn
1526-632Xpii
WNL.0000000000003868journal_volume
88pub_type
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