[HTML][HTML] Novel KCNQ2 Variants Related to a Variable Phenotypic Spectrum Ranging from Epilepsy with Auditory Features to Severe Developmental and Epileptic …
M Talarico, R Procopio, M Gagliardi… - International Journal of …, 2024 - mdpi.com
Pathogenic KCNQ2 variants are associated with neonatal epilepsies, ranging from self-
limited neonatal epilepsy to KCNQ2–developmental and epileptic encephalopathy (DEE). In …
limited neonatal epilepsy to KCNQ2–developmental and epileptic encephalopathy (DEE). In …
Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series
A Vilan, A Grangeia, JM Ribeiro, MR Cilio… - …, 2024 - thieme-connect.com
Background Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which
may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern …
may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern …