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Title
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KCNQ2-related disorders
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Author
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Abstract
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| Clinical characteristics. KCNQ2-related disorders represent a continuum of overlapping neonatal epileptic phenotypes caused by a heterozygous pathogenic variant in KCNQ2. The clinical features of KCNQ2-related disorders range from KCNQ2-related benign familial neonatal epilepsy (KCNQ2-BFNE) at the mild end to KCNQ2-related neonatal epileptic encephalopathy (KCNQ2-NEE) at the severe end. |
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Language
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English
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Source (journal)
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GeneReviews®
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Publication
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2022
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Volume/pages
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(2022)
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Pubmed ID
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20437616
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Medium
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E-only publicatie
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