Epilepsy in KBG syndrome

• DOI: 10.1111/dmcn.15428
• Publication Date: 2022-10-05T04:25:07Z
• Authors: Marina Auconi; Domenico Serino; Maria Cristina Di...; Maria Gnazzo; Marta Conti; Federico Vigevano; Lucia Fusco
• Keywords: Epilepsy syndromes

Abstract Aim To illustrate the epileptological and electroencephalographic (EEG) characteristics of a cohort patients with KBG syndrome epilepsy. Method Clinical history, age at epilepsy onset, seizure types, EEG findings, duration epilepsy, response to therapies were retrospectively reviewed in 11 (three females, eight males) syndrome. Results All detected genetic mutations pathogenic affected C‐terminal region exon 9 ANKRD11. One patient had 16q24.3 microdeletion including ANKRD11 gene. Mean onset was 67 months. Epilepsy type focal five generalized four. Two developmental epileptic encephalopathies. Seizure freedom obtained after period varying between 15 days 6 years. Interpretation In our patients, appeared respond well treatment and, some cases, be self‐limiting. The molecular patients' abnormalities did not point towards any specific hot spot. should considered diagnostic work‐up What this paper adds Some types appear self‐remitting. phenotypes associated are quite variable.