Article
The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients.
Epilepsia - 1 Jun 2017
Myers Kenneth A, Mandelstam Simone A, Ramantani Georgia, Rushing Elisabeth J, de Vries Bert B, Koolen David A, Scheffer Ingrid E
Abstract excerpt
OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic syndrome involving dysmorphic features, intellectual disability, hypotonia, and congenital malformations, that occurs secondary to 17q21.31 microdeletions and heterozygous mutations in KANSL1. METHODS: We were invited to attend a large gathering of individuals with KdVS and their...
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