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

Developmental neuroscience - 1 Jan 2021

Binaafar Sima, Garshasbi Masoud, Tavasoli Ali Reza, Badv Reza Shervin, Hosseiny Seyyed Mohammad Mahdi, Samanta Debopam, Rabbani Bahareh, Mahdieh Nejat

Abstract excerpt

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 clinical symptoms and signs. We study the genotype and phenotype of patients with nonsyndromic early-onset epileptic encephalopathy (NSEOEE) and report 2...

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PMID: 34469883
DOI: 10.1159/000519318

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