Articles with "kctd7 mutations" as a keyword



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Nonsyndromic Early-Onset Epileptic Encephalopathies: Two Novel KCTD7 Pathogenic Variants and a Literature Review

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Published in 2021 at "Developmental Neuroscience"

DOI: 10.1159/000519318

Abstract: Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other… read more here.

Keywords: epileptic encephalopathies; nonsyndromic early; onset epileptic; kctd7 mutations ... See more keywords