Pub Date : 2025-07-01DOI: 10.1016/j.ebr.2025.100801
Alia M.R. Fallatah, Hanan M. Abdulmutali, Majed H. Alhameed
Glutamic acid decarboxylase-65 (GAD65) is an enzyme responsible for the production of gamma-aminobutyric acid (GABA). Elevated levels of GAD65 antibodies have been recognized as a key biomarker of neurological autoimmune disorders, particularly autoimmune-associated epilepsy (AAE). We report the case of a 48-year-old woman with drug-resistant right temporal AAE, who initially developed seizures following a febrile illness accompanied by confusion. Notably, the patient exhibited rare ictal semiology involving stereotypical Ictal Hand kissing (IHK) behavior. Brain MRI revealed bilateral mesial temporal sclerosis (MTS), which was more pronounced on the right side. High serum titers of GAD65 antibodies further supported this diagnosis. This case underscores the incompletely elucidated clinical features of GAD65-positive AAE, and highlights the unique semiology of IHK behavior and its role in understanding and characterizing possible underlying epileptogenic networks.
{"title":"GAD65-positive autoimmune-associated epilepsy presenting with Ictal Hand Kissing; an uncommon presentation of a rare disease","authors":"Alia M.R. Fallatah, Hanan M. Abdulmutali, Majed H. Alhameed","doi":"10.1016/j.ebr.2025.100801","DOIUrl":"10.1016/j.ebr.2025.100801","url":null,"abstract":"<div><div>Glutamic acid decarboxylase-65 (GAD65) is an enzyme responsible for the production of gamma-aminobutyric acid (GABA). Elevated levels of GAD65 antibodies have been recognized as a key biomarker of neurological autoimmune disorders, particularly autoimmune-associated epilepsy (AAE). We report the case of a 48-year-old woman with drug-resistant right temporal AAE, who initially developed seizures following a febrile illness accompanied by confusion. Notably, the patient exhibited rare ictal semiology involving stereotypical Ictal Hand kissing (IHK) behavior. Brain MRI revealed bilateral mesial temporal sclerosis (MTS), which was more pronounced on the right side. High serum titers of GAD65 antibodies further supported this diagnosis. This case underscores the incompletely elucidated clinical features of GAD65-positive AAE, and highlights the unique semiology of IHK behavior and its role in understanding and characterizing possible underlying epileptogenic networks.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100801"},"PeriodicalIF":1.8,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144534623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-27DOI: 10.1016/j.ebr.2025.100800
Christopher Saouda, Yamane Makke, Helen Edelberg, Mohamad Z. Koubeissi
Cenobamate (CNB) is an antiseizure medication (ASM) approved for the treatment of focal epilepsy. Rash and edema are uncommon adverse effects of this medication. We report two patients with medically refractory epilepsy (MRE) who received CNB and developed chest and facial rash and edema after the initial dose of 12.5 mg/d that prompted discontinuation of the medication with ensuing resolution of the rash and edema. Rechallenging with CNB resulted in similar reactions. Our report aims at increasing awareness of these reactions to CNB.
{"title":"Rash and edema shortly after initial exposure to low dose cenobamate","authors":"Christopher Saouda, Yamane Makke, Helen Edelberg, Mohamad Z. Koubeissi","doi":"10.1016/j.ebr.2025.100800","DOIUrl":"10.1016/j.ebr.2025.100800","url":null,"abstract":"<div><div>Cenobamate (CNB) is an antiseizure medication (ASM) approved for the treatment of focal epilepsy. Rash and edema are uncommon adverse effects of this medication. We report two patients with medically refractory epilepsy (MRE) who received CNB and developed chest and facial rash and edema after the initial dose of 12.5 mg/d that prompted discontinuation of the medication with ensuing resolution of the rash and edema. Rechallenging with CNB resulted in similar reactions. Our report aims at increasing awareness of these reactions to CNB.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100800"},"PeriodicalIF":1.8,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144502037","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-25DOI: 10.1016/j.ebr.2025.100799
Andrew Zillgitt , David E Burdette , Atheel Yako , Revati Rashingkar , Ashleigh Terrell , Sydney Jacobs , Michael D Staudt
Clobazam (CLB) and cenobamate (CNB) are commonly used antiseizure medications (ASMs) in the treatment of patients with drug-resistant epilepsy (DRE). However, concomitant use of these two ASMs may lead to significant treatment-related adverse events (TRAE). Furthermore, these TRAE may be exacerbated in individuals with genetic polymorphisms involving the P450 system. In patients with DRE, epilepsy surgery, including neuromodulation, may lead to improved seizure control and a reduction in systemic TRAE from ASMs. This case report describes a patient with drug-resistant idiopathic generalized epilepsy (IGE) who experienced persistent excessive somnolence correlated with elevated N-desmethylclobazam (N-CLB) levels. Pharmacogenetic testing revealed poor metabolism of CYP2C19, and N-CLB levels remained elevated and detectable for nearly one year after the discontinuation of treatment with CLB and CNB. Responsive neurostimulator (RNS) implantation within the bilateral centromedian nuclei (CMN) of the thalamus resulted in seizure freedom until N-CLB levels fell, after which there was an 83–93 % reduction in the frequency of generalized tonic-clonic seizures (GTC).
{"title":"Synergistic seizure reduction in patient with persistently elevated N-desmethylclobazam levels, CYP450 genetic polymorphism, and responsive neurostimulator targeting centromedian nuclei of bilateral thalami","authors":"Andrew Zillgitt , David E Burdette , Atheel Yako , Revati Rashingkar , Ashleigh Terrell , Sydney Jacobs , Michael D Staudt","doi":"10.1016/j.ebr.2025.100799","DOIUrl":"10.1016/j.ebr.2025.100799","url":null,"abstract":"<div><div>Clobazam (CLB) and cenobamate (CNB) are commonly used antiseizure medications (ASMs) in the treatment of patients with drug-resistant epilepsy (DRE). However, concomitant use of these two ASMs may lead to significant treatment-related adverse events (TRAE). Furthermore, these TRAE may be exacerbated in individuals with genetic polymorphisms involving the P450 system. In patients with DRE, epilepsy surgery, including neuromodulation, may lead to improved seizure control and a reduction in systemic TRAE from ASMs. This case report describes a patient with drug-resistant idiopathic generalized epilepsy (IGE) who experienced persistent excessive somnolence correlated with elevated N-desmethylclobazam (N-CLB) levels. Pharmacogenetic testing revealed poor metabolism of CYP2C19, and N-CLB levels remained elevated and detectable for nearly one year after the discontinuation of treatment with CLB and CNB. Responsive neurostimulator (RNS) implantation within the bilateral centromedian nuclei (CMN) of the thalamus resulted in seizure freedom until N-CLB levels fell, after which there was an 83–93 % reduction in the frequency of generalized tonic-clonic seizures (GTC).</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100799"},"PeriodicalIF":1.8,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144680422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-21DOI: 10.1016/j.ebr.2025.100798
Jun Zhuang , Lingxia Fei , Hua Li , Qiang Guo
Within the spectrum of epileptic syndromes, insular epilepsy presents significant diagnostic complexity, making it a challenging entity in clinical practice. The insula, located deep within the lateral fissure, exhibits highly heterogeneous and non-specific ictal manifestations, frequently leading to misdiagnosis as other medical conditions. This study presents two cases of insular epilepsy with isolated facial pain as the sole clinical manifestation. Using stereotactic electroencephalography (SEEG), we precisely localized the seizure onset zone (SOZ) to the posterior insular cortex in both patients. Based on SEEG data, we conducted comprehensive analysis of the ictal epileptogenic networks and performed relevant literature review. Our findings aim to enhance clinicians’ recognition of atypical presentations of insular epilepsy and provide novel clinical perspectives and diagnostic approaches for the differential diagnosis of refractory facial pain.
{"title":"The posterior insula as an independent pain center: Two cases of isolated facial pain-type epilepsy revealed by stereo-electroencephalography","authors":"Jun Zhuang , Lingxia Fei , Hua Li , Qiang Guo","doi":"10.1016/j.ebr.2025.100798","DOIUrl":"10.1016/j.ebr.2025.100798","url":null,"abstract":"<div><div>Within the spectrum of epileptic syndromes, insular epilepsy presents significant diagnostic complexity, making it a challenging entity in clinical practice. The insula, located deep within the lateral fissure, exhibits highly heterogeneous and non-specific ictal manifestations, frequently leading to misdiagnosis as other medical conditions. This study presents two cases of insular epilepsy with isolated facial pain as the sole clinical manifestation. Using stereotactic electroencephalography (SEEG), we precisely localized the seizure onset zone (SOZ) to the posterior insular cortex in both patients. Based on SEEG data, we conducted comprehensive analysis of the ictal epileptogenic networks and performed relevant literature review. Our findings aim to enhance clinicians’ recognition of atypical presentations of insular epilepsy and provide novel clinical perspectives and diagnostic approaches for the differential diagnosis of refractory facial pain.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100798"},"PeriodicalIF":1.8,"publicationDate":"2025-06-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144365605","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-19DOI: 10.1016/j.ebr.2025.100797
Laith Haddad , Samah Trad , Lama Charafeddine , Pascale E. Karam
Neonatal glycine encephalopathy is a rare genetic neurometabolic disorder secondary to glycine cleavage system deficiency. Patients typically present with early-onset intractable seizures, status epilepticus and encephalopathy. Seizures control remains challenging in view of their refractoriness to standard anti-seizure medications. Sodium benzoate is commonly used to control the elevated glycine level. Oral anti-NMDA receptor antagonists, ketamine and dextromethorphan, have been used in various combinations in the treatment of this complex disorder. In this report, we present a neonatal case of classical glycine encephalopathy with hypotonia and refractory myoclonic seizures. The status epilepticus was successfully treated using a combination of intravenous ketamine, oral dextromethorphan and sodium benzoate. Seizures resolved and the patient’s development showed improvement on follow-up. The intravenous form of ketamine in the neonatal period is rarely used, and it has been reported in only two glycine encephalopathy patients in the literature. This is the first report in the literature of the efficacy of intravenous ketamine using the above triple therapy. This intervention might have implications on the management of neonatal intractable seizures in glycine encephalopathy, which might improve the outcome of this devastating disorder.
{"title":"Seizure control in glycine encephalopathy using the Ketamine-Dextromethorphan-Sodium benzoate triple therapy","authors":"Laith Haddad , Samah Trad , Lama Charafeddine , Pascale E. Karam","doi":"10.1016/j.ebr.2025.100797","DOIUrl":"10.1016/j.ebr.2025.100797","url":null,"abstract":"<div><div>Neonatal glycine encephalopathy is a rare genetic neurometabolic disorder secondary to glycine cleavage system deficiency. Patients typically present with early-onset intractable seizures, status epilepticus and encephalopathy. Seizures control remains challenging in view of their refractoriness to standard anti-seizure medications. Sodium benzoate is commonly used to control the elevated glycine level. Oral anti-NMDA receptor antagonists, ketamine and dextromethorphan, have been used in various combinations in the treatment of this complex disorder. In this report, we present a neonatal case of classical glycine encephalopathy with hypotonia and refractory myoclonic seizures. The status epilepticus was successfully treated using a combination of intravenous ketamine, oral dextromethorphan and sodium benzoate. Seizures resolved and the patient’s development showed improvement on follow-up. The intravenous form of ketamine in the neonatal period is rarely used, and it has been reported in only two glycine encephalopathy patients in the literature. This is the first report in the literature of the efficacy of intravenous ketamine using the above triple therapy. This intervention might have implications on the management of neonatal intractable seizures in glycine encephalopathy, which might improve the outcome of this devastating disorder.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100797"},"PeriodicalIF":1.8,"publicationDate":"2025-06-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144330318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-18DOI: 10.1016/j.ebr.2025.100786
Samwel Sylvester Msigwa , Suluma Aslan , Elizabeth Mareale , Mercy Bingileki
We report the first case of a 14-year-old boy presenting with the rare co-occurrence of cavum septi pellucidi et vergae (CSPV), epilepsy with eyelid myoclonia (EEM), and schizoaffective disorder (SAD). The patient initially presented with a one-month history of abnormal eye movements, including continuous blinking and upward rolling of the eyeballs, which occurred predominantly at night. There was no alteration in consciousness. A detailed history revealed that the patient had experienced mood disturbances, delusional beliefs, auditory and visual hallucinations, and significant behavioral dysregulation for one year. These symptoms had been partially managed with haloperidol. Magnetic resonance imaging (MRI) confirmed the presence of CSPV. At the same time, electroencephalography (EEG) during intermittent photic stimulation demonstrated brief generalized epileptiform discharges triggered by eye closure, consistent with a diagnosis of EEM. The simultaneous presence of psychotic and affective symptoms met the diagnostic criteria for SAD. The patient was treated with sodium valproate in addition to his existing low-dose haloperidol regimen. This led to the complete resolution of seizures and psycho-affective symptoms at one- and three-month follow-ups. However, a decline in academic performance was noted at the one-year follow-up. In resource-limited settings without access to genetic or autoimmune tests, care was guided by practical adaptations rather than standard protocols. This case highlights a potential neurodevelopmental link between CSPV and epileptic and psychiatric manifestations, underscores the value of neuroimaging and EEG in pediatric neuropsychiatric overlap, and calls for research into mechanisms connecting midline brain anomalies with complex neuropsychiatric disorders.
{"title":"Coexistence of epilepsy with eyelid myoclonia, schizoaffective disorder, and cavum septi pellucidi et vergae: A case report","authors":"Samwel Sylvester Msigwa , Suluma Aslan , Elizabeth Mareale , Mercy Bingileki","doi":"10.1016/j.ebr.2025.100786","DOIUrl":"10.1016/j.ebr.2025.100786","url":null,"abstract":"<div><div>We report the first case of a 14-year-old boy presenting with the rare co-occurrence of cavum septi pellucidi et vergae (CSPV), epilepsy with eyelid myoclonia (EEM), and schizoaffective disorder (SAD). The patient initially presented with a one-month history of abnormal eye movements, including continuous blinking and upward rolling of the eyeballs, which occurred predominantly at night. There was no alteration in consciousness. A detailed history revealed that the patient had experienced mood disturbances, delusional beliefs, auditory and visual hallucinations, and significant behavioral dysregulation for one year. These symptoms had been partially managed with haloperidol. Magnetic resonance imaging (MRI) confirmed the presence of CSPV. At the same time, electroencephalography (EEG) during intermittent photic stimulation demonstrated brief generalized epileptiform discharges triggered by eye closure, consistent with a diagnosis of EEM. The simultaneous presence of psychotic and affective symptoms met the diagnostic criteria for SAD. The patient was treated with sodium valproate in addition to his existing low-dose haloperidol regimen. This led to the complete resolution of seizures and psycho-affective symptoms at one- and three-month follow-ups. However, a decline in academic performance was noted at the one-year follow-up. In resource-limited settings without access to genetic or autoimmune tests, care was guided by practical adaptations rather than standard protocols. This case highlights a potential neurodevelopmental link between CSPV and epileptic and psychiatric manifestations, underscores the value of neuroimaging and EEG in pediatric neuropsychiatric overlap, and calls for research into mechanisms connecting midline brain anomalies with complex neuropsychiatric disorders.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100786"},"PeriodicalIF":1.8,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144320785","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-16DOI: 10.1016/j.ebr.2025.100785
Rishi Katragadda , Kyung Eun Paik , D. Dilara Ertenu , Ahmad Marashly , Jay A. Salpekar , Aaron Hauptman
Catatonia is a neurobehavioral and motor syndrome that can occur in persons with epilepsy (PWE), though it is rarely described in individuals with developmental and genetic epilepsies such as Dravet syndrome. This case report describes a young adult with Dravet syndrome who developed catatonia after improving seizure control. In this report we explore forced normalization (FN) as a potential mediating mechanism. An 18-year-old male with Dravet syndrome experienced significant seizure reduction after zonisamide was added to his antiseizure regimen. Within two weeks, he developed catatonic features, including mutism, catalepsy, and psychomotor retardation. Bush Francis Catatonia Rating Scale (BFCRS) scores ranged from 17 to 22. Catatonia improved with lorazepam, though seizure frequency increased after zonisamide taper. He later experienced a decline in both neurological and psychiatric function following status epilepticus. EEG was not performed at the time of symptom onset, which limits the ability to diagnose this patient with FN. However, the clinical criteria for FN were partially met, and the timing of zonisamide initiation and catatonia emergence supports its consideration. Non-convulsive status epilepticus (NCSE) remains a plausible alternative mechanism for the catatonia seen in this patient, particularly in those with developmental encephalopathies. This case demonstrates an interesting temporal relationship between improved seizure control and emergence of catatonia in a patient with genetic epilepsy. Further research is required to clarify the relationship between catatonia and FN in epilepsy.
{"title":"Association between Dravet syndrome and Catatonia: a case report","authors":"Rishi Katragadda , Kyung Eun Paik , D. Dilara Ertenu , Ahmad Marashly , Jay A. Salpekar , Aaron Hauptman","doi":"10.1016/j.ebr.2025.100785","DOIUrl":"10.1016/j.ebr.2025.100785","url":null,"abstract":"<div><div>Catatonia is a neurobehavioral and motor syndrome that can occur in persons with epilepsy (PWE), though it is rarely described in individuals with developmental and genetic epilepsies such as Dravet syndrome. This case report describes a young adult with Dravet syndrome who developed catatonia after improving seizure control. In this report we explore forced normalization (FN) as a potential mediating mechanism. An 18-year-old male with Dravet syndrome experienced significant seizure reduction after zonisamide was added to his antiseizure regimen. Within two weeks, he developed catatonic features, including mutism, catalepsy, and psychomotor retardation. Bush Francis Catatonia Rating Scale (BFCRS) scores ranged from 17 to 22. Catatonia improved with lorazepam, though seizure frequency increased after zonisamide taper. He later experienced a decline in both neurological and psychiatric function following status epilepticus. EEG was not performed at the time of symptom onset, which limits the ability to diagnose this patient with FN. However, the clinical criteria for FN were partially met, and the timing of zonisamide initiation and catatonia emergence supports its consideration. Non-convulsive status epilepticus (NCSE) remains a plausible alternative mechanism for the catatonia seen in this patient, particularly in those with developmental encephalopathies. This case demonstrates an interesting temporal relationship between improved seizure control and emergence of catatonia in a patient with genetic epilepsy. Further research is required to clarify the relationship between catatonia and FN in epilepsy.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100785"},"PeriodicalIF":1.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144365606","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-13DOI: 10.1016/j.ebr.2025.100783
Augustin Moreau , Elisabeth Ruppert , Frédéric Blanc , Olivier BOUSIGES , Benjamin Cretin
Late-onset epilepsy of unknown etiology (LOEU) is associated with an increased risk of dementia. Current biomarkers, including cerebrospinal fluid (CSF) and positron emission tomography (PET) assessments for amyloid and tau, often fail to predict cognitive decline in a substantial proportion of LOEU patients. This case report presents a 67-year-old man with LOEU who later developed dementia with Lewy bodies (DLB). As cognitive decline progressed, emerging mild clinical features raised suspicion for DLB. Notably, cerebrospinal fluid analysis at this stage revealed negative amyloid and tau biomarkers but was positive for pathological alpha-synuclein using alpha-synuclein seed amplification assay (CSF ASyn-SAA). This finding highlights the potential clinical utility of CSF ASyn-SAA in achieving both earlier and more accurate DLB diagnosis. For LOEU patients exhibiting early signs of synucleinopathy, incorporating CSF ASyn-SAA into diagnostic panels could significantly improve diagnostic certainty, prognostic stratification, and opportunities for targeted therapeutic interventions. Further research is needed to investigate the yield of adding ASyn-SAA to CSF dementia panels in people with LOEU and progressive cognitive symptoms.
{"title":"Late-onset unexplained epilepsy with dual amyloid and tau negativity: are alpha-synuclein seed amplification assays the next diagnostic step?","authors":"Augustin Moreau , Elisabeth Ruppert , Frédéric Blanc , Olivier BOUSIGES , Benjamin Cretin","doi":"10.1016/j.ebr.2025.100783","DOIUrl":"10.1016/j.ebr.2025.100783","url":null,"abstract":"<div><div>Late-onset epilepsy of unknown etiology (LOEU) is associated with an increased risk of dementia. Current biomarkers, including cerebrospinal fluid (CSF) and positron emission tomography (PET) assessments for amyloid and tau, often fail to predict cognitive decline in a substantial proportion of LOEU patients.<!--> <!-->This case report presents a 67-year-old man with LOEU who later developed dementia with Lewy bodies (DLB). As cognitive decline progressed, emerging mild clinical features raised suspicion for DLB. Notably, cerebrospinal fluid analysis at this stage revealed negative amyloid and tau biomarkers but was positive for pathological alpha-synuclein using alpha-synuclein seed amplification assay (CSF ASyn-SAA). This finding highlights the potential clinical utility of CSF ASyn-SAA in achieving both earlier and more accurate DLB diagnosis. For LOEU patients exhibiting early signs of synucleinopathy, incorporating CSF ASyn-SAA into diagnostic panels could significantly improve diagnostic certainty, prognostic stratification, and opportunities for targeted therapeutic interventions. Further research is needed to investigate the yield of adding ASyn-SAA to CSF dementia panels in people with LOEU and progressive cognitive symptoms.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100783"},"PeriodicalIF":1.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144313974","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-13DOI: 10.1016/j.ebr.2025.100784
Tal Benoliel , Oshrit Arviv , Diya Doufish , Netaniel Rein , Yuval Harpaz , Evgeny Tsizin , Michal Balberg , Sami Heymann , Zvi Israel , Mordekhay Medvedovsky , Dana Ekstein
The data obtained from stereo-elecroencephalography (SEEG) in patients with focal epilepsy are crucial for defining the epileptogenic zone and achieving successful resection, but suboptimal electrode placement impairs SEEG results. We demonstrate an approach for concurrent scalp and depth EEG analysis from one patient with successful intracranial workup and one in whom the seizure onset zone was unsampled by SEEG. Intracranial epileptiform discharges were identified and clustered, their scalp correlates were averaged, and electric source imaging (ESI) was applied to the resulting averaged scalp potential – depth-to-scalp ESI (dsESI). We found temporal differences between intracranial and scalp peaks, as well as variations in averaged scalp spikes morphology and propagation, expressed by their amplitudes and width, and by their jitter across involved electrodes. Put together with the relative degree of focality and location of the averaged scalp spikes’ ESI on the cortex, these data could differentiate onset from propagation of interictal activity and identify unexplored nodes in the epileptic network. Our novel analysis highlights the importance of temporal, and not just spatial, spike dynamics within the epileptic network, may be used to validate depth electrode placement and aid in understanding the epileptic network.
{"title":"Depth-to-scalp spatiotemporal dynamics for stereo-EEG","authors":"Tal Benoliel , Oshrit Arviv , Diya Doufish , Netaniel Rein , Yuval Harpaz , Evgeny Tsizin , Michal Balberg , Sami Heymann , Zvi Israel , Mordekhay Medvedovsky , Dana Ekstein","doi":"10.1016/j.ebr.2025.100784","DOIUrl":"10.1016/j.ebr.2025.100784","url":null,"abstract":"<div><div>The data obtained from stereo-elecroencephalography (SEEG) in patients with focal epilepsy are crucial for defining the epileptogenic zone and achieving successful resection, but suboptimal electrode placement impairs SEEG results. We demonstrate an approach for concurrent scalp and depth EEG analysis from one patient with successful intracranial workup and one in whom the seizure onset zone was unsampled by SEEG. Intracranial epileptiform discharges were identified and clustered, their scalp correlates were averaged, and electric source imaging (ESI) was applied to the resulting averaged scalp potential – depth-to-scalp ESI (dsESI). We found temporal differences between intracranial and scalp peaks, as well as variations in averaged scalp spikes morphology and propagation, expressed by their amplitudes and width, and by their jitter across involved electrodes. Put together with the relative degree of focality and location of the averaged scalp spikes’ ESI on the cortex, these data could differentiate onset from propagation of interictal activity and identify unexplored nodes in the epileptic network. Our novel analysis highlights the importance of temporal, and not just spatial, spike dynamics within the epileptic network, may be used to validate depth electrode placement and aid in understanding the epileptic network.</div></div>","PeriodicalId":36558,"journal":{"name":"Epilepsy and Behavior Reports","volume":"31 ","pages":"Article 100784"},"PeriodicalIF":1.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144470595","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-06-02DOI: 10.1016/j.ebr.2025.100782
Antoine Plaquevent , Floriane Le Goff , Nathalie Chastan
Epilepsy is a common and disabling neurological disorder. To significantly improve the quality of life of patients, the primary goal is to achieve seizure freedom. Unfortunately, 30 % of epilepsies are drug-resistant and seizure freedom is not acheived. Cenobamate is a new anti-seizure medication (ASM) used as a treatment for focal epilepsy in adults whose seizures have not been able to be controlled by two prior ASM. Two previous pivotal studies have showed an unusual seizure-free rate at 21 % and 28 %. A retrospective observational study was conducted to determine the effectiveness, safety and retention of cenobamate in 87 patients with highly focal drug-resistant epilepsy. The responder rate was 48 % with a seizure-free rate of 18 % at the last follow-up, with a mean dose of cenobamate at 216 mg. Adverse events were reported in 74 % patients, the most frequent being somnolence/fatigue and dizziness. No cases of DRESS or death were reported during the study. Cenobamate was discontinued in 34 % of patients, for a lack of efficacy despite an adequate dosage (≥ 200 mg) in 30 %, a poor tolerance in 27 %, for both insufficient efficacy and poor tolerance in 40 %, or for pregnancy plans in 3 %. Cenobamate is an effective and well-tolerated ASM in drug-resistant focal epilepsy and should be tried for highly drug-resistant epilepsy, even if many previous ASM have failed. Moreover, the impressive seizure-free rate leads to introducing cenobamate to all patients before or during the evaluation for surgical candidacy, and in any case before any resective surgery.
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