Adult phenotype of KCNQ2 encephalopathy
Adult phenotype of KCNQ2 encephalopathy
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Publisher
England: BMJ Publishing Group Ltd
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Language
English
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Publisher
England: BMJ Publishing Group Ltd
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BackgroundPathogenic KCNQ2 variants are a frequent cause of developmental and epileptic encephalopathy.MethodsWe recruited 13 adults (between 18 years and 45 years of age) with KCNQ2 encephalopathy and reviewed their clinical, EEG, neuroimaging and treatment history.ResultsWhile most patients had daily seizures at seizure onset, seizure frequency d...
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Full title
Adult phenotype of KCNQ2 encephalopathy
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TN_cdi_proquest_miscellaneous_2508578551
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2508578551
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmedgenet-2020-107449
