Novel variant ANKRD11 gene mutation associated with drug-resistant epilepsy in KBG syndrome phenotype

KBG syndrome is a rare genetic disorder caused by mutations in the ANKRD11 gene. It is characterized by a macrodontia, short stature, distinctive craniofacial features, skeletal findings, intellectual disability, neurobehavioral anomalies. 1-3Additional findings associated with KBG syndrome including a prominent and elongated coccyx, wide fontanels, delayed speech development, hoarse voice, hearing loss, and ear lobe creases were described in the literature.4-7EEG abnormalities, with or without seizures, have been reported in about 50% of affected individuals.

Source: Pediatric Neurology - March 16, 2024 Category: Neurology Authors: Marija Babunovska, Tatjana Cepreganova Cangovska, Igor Kuzmanovski, Predrag Noveski, Dijana Plaseska-Karanfilska, Emilija Cvetkovska Tags: Research Paper Source Type: research