biostudies-literatureUnknown66(8)Wagner K<h4>Objective</h4>What factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)?<h4>Methods</h4>We conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years. Analyzed parameters included development/intellectual functioning, behavior, seizure types and frequency, as well as electroencephalography (EEG) and magnetic resonance imaging (MRI) analyses.<h4>Results</h4>Half of the patients showed signs of global developmental delay (GDD) or intellectual disability (ID). Patients with GDD/ID were younger at epilepsy onset (p < .05) and at first referral (p < .001), had shorter disease durations (p < .01), experienced more frequent seizures (p < .001), and were prescribed more antiseizure medication (ASM; p < .01). They also had larger HH volumes (hamartoma types Delalande III and IV, both p < .001) and more frequent pathological EEG background activity (p < .001), as well as more extended interictal epileptiform discharges (IEDs; p < .05, the rate of IED and seizure types were comparable, p > .05). Of interest, pathological EEG background activity and HH type were the only predictors of GDD/ID resulting in a highly predictive model (R² = 0.75, p < .001). Patients with GDD/ID also experienced more externalized behavioral problems, particularly aggression, which was predicted only by EEG background activity (R² = 0.36, p < .001). None of the epilepsy-specific parameters, such as duration and seizure type or frequency, were significant predictors.<h4>Significance</h4>Our findings support the idea that patients with epilepsy due to HH and GDD/ID may have a more severe underlying condition with a likely genetic etiology, characterized by developmental and epileptic encephalopathy.Epilepsia2894-2903https://www.ebi.ac.uk/biostudies/studies/S-EPMC12371641biostudies-literatureDevelopmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas.PMC12371641Metzger SNiedermoser FUrbach HSchulze-Bonhage APutzar LWagner KDemerath TMetternich BSan Antonio-Arce VKlotz KAfalseDevelopmental and epileptic encephalopathy in patients with epilepsy due to hypothalamic hamartomas.<h4>Objective</h4>What factors influence cognition and behavior in patients with epilepsy caused by hypothalamic hamartoma (HH)?<h4>Methods</h4>We conducted a retrospective study of 103 patients referred to the Epilepsy Center in Freiburg, Germany, over the past 24 years. Analyzed parameters included development/intellectual functioning, behavior, seizure types and frequency, as well as electroencephalography (EEG) and magnetic resonance imaging (MRI) analyses.<h4>Results</h4>Half of the patients showed signs of global developmental delay (GDD) or intellectual disability (ID). Patients with GDD/ID were younger at epilepsy onset (p < .05) and at first referral (p < .001), had shorter disease durations (p < .01), experienced more frequent seizures (p < .001), and were prescribed more antiseizure medication (ASM; p < .01). They also had larger HH volumes (hamartoma types Delalande III and IV, both p < .001) and more frequent pathological EEG background activity (p < .001), as well as more extended interictal epileptiform discharges (IEDs; p < .05, the rate of IED and seizure types were comparable, p > .05). Of interest, pathological EEG background activity and HH type were the only predictors of GDD/ID resulting in a highly predictive model (R² = 0.75, p < .001). Patients with GDD/ID also experienced more externalized behavioral problems, particularly aggression, which was predicted only by EEG background activity (R² = 0.36, p < .001). None of the epilepsy-specific parameters, such as duration and seizure type or frequency, were significant predictors.<h4>Significance</h4>Our findings support the idea that patients with epilepsy due to HH and GDD/ID may have a more severe underlying condition with a likely genetic etiology, characterized by developmental and epileptic encephalopathy.2025-01-01T00:00:00Z2025 Aug2026-05-09T10:39:10.371Z2026-04-08T00:48:04.165ZS-EPMC123716414020758910.1111/epi.18404