Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome.
Nathan BuijsseFloor E JansenCharlotte W OckeloenMarjan J A van KempenShimriet ZeidlerMarjolein H WillemsenEmanuela ScaranoSonia MonticoneEvelien Zonneveld-HuijssoonKaren J LowCarolina AlvarezSanjay M SisodiyaDebopam SamantaGaëtan LescaDanielle de JongJaqcues C GiltayNienke E VerbeekTjitske KleefstraEva H BrilstraDanique R M VlaskampPublished in: Epilepsia open (2023)
Epilepsy in KBG syndrome most often presents as a generalized or combined focal and generalized type. No distinctive epilepsy syndrome could be identified. Patients with KBG syndrome and epilepsy had a significant poorer neurodevelopmental outcome compared to those without epilepsy. Clinicians should consider KBG syndrome as a causal etiology of epilepsy and be aware of the poorer neurodevelopmental outcome in individuals with epilepsy.