KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood
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DOI: 10.1371/journal.pone.0191546
Abstract: Background KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectual disability; amiable personality, congenital malformations and seizures also commonly occur. The epilepsy phenotypic spectrum in KdVS is broad, but most individuals… read more here.
Keywords: kansl1; limited focal; cohort; self limited ... See more keywords