PIGN encephalopathy: Characterizing the epileptology.
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DOI: 10.1111/epi.17173
Abstract: OBJECTIVE Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. METHODS We recruited patients with epilepsy due… read more here.
Keywords: epilepsy; epileptology pign; epileptology; pign encephalopathy ... See more keywords
From Basic Sciences and Engineering to Epileptology: A Translational Approach.
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DOI: 10.1111/epi.17566
Abstract: Collaborative efforts between basic scientists, engineers, and clinicians are enabling translational epileptology. In this paper, we summarize recent advances presented at the International Conference for Technology and Analysis of Seizures (ICTALS 2022): 1) novel developments… read more here.
Keywords: engineering epileptology; epileptology translational; sciences engineering; translational approach ... See more keywords
Recognition and Epileptology of Protracted CLN3 Disease.
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DOI: 10.1111/epi.17616
Abstract: OBJECTIVE To analyse phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder. METHODS We analysed phenotypic data of ten patients from six families with protracted CLN3 disease.… read more here.
Keywords: recognition; deletion; disease; epileptology ... See more keywords
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