SYNGAP1 encephalopathy
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DOI: 10.1212/wnl.0000000000008352
Abstract: Objective To delineate the epileptology, a key part of the SYNGAP1 phenotypic spectrum, in a large patient cohort. Methods Patients were recruited via investigators’ practices or social media. We included patients with (likely) pathogenic SYNGAP1… read more here.
Keywords: syngap1 encephalopathy; eyelid myoclonia; epileptology; seizure ... See more keywords
Author response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy
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DOI: 10.1212/wnl.0000000000009010
Abstract: We thank Wolf and colleagues for their thoughtful comment on our SYNGAP1 encephalopathy study.1 The observation of reflex seizures triggered by eating in 25% of our cohort of 57 patients is intriguing and reflects their… read more here.
Keywords: syngap1 encephalopathy; author response; syngap1; response syngap1 ... See more keywords