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Article

Phenotypic characterization of KCTD3-related developmental epileptic encephalopathy.

Clinical genetics - 1 May 2018

Faqeih E A, Almannai M, Saleh M M, AlWadei A H, Samman M M, Alkuraya F S

Abstract excerpt

The association between KCTD3 gene and neurogenetic disorders has only been published recently. In this report, we describe the clinical phenotype associated with 2 pathogenic variants in KCTD3 gene. Seven individuals (including one set of monozygotic twin) from 4 consanguineous families presented with developmental epileptic encephalopathy, global developmental delay, central hypotonia, progressive peripheral...

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Identifiers

PMID: 29406573
DOI: 10.1111/cge.13227

Genes

KCTD3

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