Nardello R, Mangano GD, Antona V, Fontana A, Striano P, Giorgio E, Brusco A, Mangano S, Salpietro V, Electroclinical features and outcome of ANKRD11-related KBG syndrome: a novel report and literature review, Seizure: European Journal of Epilepsy (2020), doi: https://doi.org/10.1016/j.seizure.2020.12.017
KBG syndrome (OMIM #148050) is a rare autosomal dominant disorder, typically characterized by macrodontia of the upper central incisors, distinct craniofacial findings, short stature, and skeletal anomalies associated with neurological involvement including intellectual disability, behaviour difficulties, and epilepsy. KBG syndrome is associated with mutations in ANKRD11 gene that plays a chromatin regulator role of histone acetylation and gene expression during neurogenesis in the embryonic brain. A systemic review of epilepsy and EEG anomalies in subjects with KBG syndrome is missing. Samanta first described in a patient an intermittent bisynchronous temporo-occipital rhythmic delta activity and episodes of staring spells with no EEG changes suggesting that these findings may be specific to KBG syndrome.
Here, we report a patient with a severe neurological phenotype of KBG syndrome associated with a novel heterozygous frame-shift de novo variant in the ANKRD11 (NM_013275.6) gene, to contribute to identify a specific electroclinical pattern of KBG syndrome.