Generalized Tonic Clonic Research Articles

Exploring the Connection Between Family History of Seizures and Post-traumatic Brain Injury Seizure Types: A Retrospective Study

Background: Traumatic brain injury (TBI) is one of the most common presentations to emergency departments and is associated with seizures carrying different significance at different stages following injury. The occurrence of seizures after head injury is a recognized complication of TBI and has been demonstrated to worsen functional outcomes significantly. Despite previous studies identifying various PTS risk factors, our understanding remains limited, particularly regarding familial seizure history. Materials and Methods: A retrospective study was conducted at King Abdullah University Hospital (KAUH), Jordan, examining 1934 TBI cases from 2017 to 2023, identifying 118 patients with confirmed post-traumatic seizures. Results: This study involved 118 TBI patients, aged between 2 and 86 years (median 21.5 years), with 74.6% male and 25.4% female. A family history of seizures was reported by 23.7% of patients. Intracerebral hemorrhage (ICH) (52.5%) and subarachnoid hemorrhage (SAH) (38.1%) were the predominant trauma types. Generalized tonicclonic (GTCs) seizures (69.5%) and focal seizures (30.5%) were observed post-TBI. Among 28 patients with a family history of seizures, no evidence of association was observed between the family history and post-traumatic seizure types (GTCs or focal seizures), this was confirmed by performing Chi-square tests (p = 0.9841) and logistic regression analysis (p = 0.79). Conclusion: Our findings suggest that there is no evidence of the association between family history and post-traumatic seizure types, implying that a specialized approach for patients with positive family histories may not be warranted. Larger studies are recommended for further validation.

Ketogenic Diet as a Therapeutic Intervention for Doose Syndrome: A Case Report and Review of Current Evidence

Epilepsy with myoclonic-atonic seizures, also known as Doose syndrome or myoclonic–astatic epilepsy (MAE), represents a challenging pediatric epilepsy syndrome, initially described by Doose et al. in 1970. MAE accounts for 1%–2.2% of juvenile-onset epilepsy cases, characterized by normal early development, followed by seizure onset between 7 months and 6 years. Seizure types include myoclonic, myoclonic-atonic, generalized tonic–clonic, and atypical absences, often accompanied by nonconvulsive status epilepticus. Electroencephalogram typically shows parietal-dominant rhythmic theta activity or a posterior 4 Hz pattern. While conventional antiseizure medications (ASMs) offer some efficacy, outcomes vary widely, and up to 50% of patients may experience refractory seizures and poor intellectual outcomes. The ketogenic diet (KD), a high-fat, low-carbohydrate diet inducing ketosis, has shown promise in reducing seizure frequency and severity in refractory epilepsy, including MAE. This case report describes a successful outcome with a South Indian style KD in a 3-year-old boy with Doose syndrome presenting with 20–25 daily head drop seizures despite multiple ASMs and steroid therapy. Initiation of a home-based KD utilizing traditional household ingredients significantly reduced seizure frequency by 60% within 1 month and 80% within 2 months and was 100% seizure-free in 3rd month following KD, alongside developmental improvements. The KD was well-tolerated, with improved nutritional status. This case underscores KD’s potential as a viable complementary therapy for MAE, emphasizing the need for ongoing parental support and supervision to ensure dietary adherence and optimize outcomes. It is commonly believed that the KD is challenging for the South Indian population to follow due to the high carbohydrate content in South Indian cuisine. However, this case demonstrates that a KD can indeed be tailored around South Indian dishes, highlighting the uniqueness of this approach. When the diet is customized to consider a child’s dietary habits, culture, and cuisine, it becomes easier to follow over the long term, leading to effective seizure control. Further research is necessary to refine dietary protocols and evaluate long-term efficacy in MAE management.

Distinctive Clinico-electrographic and Radiological Profile of Childhood and Adolescent Seizures.

Electroencephalogram (EEG) is specific, but not sensitive, for the diagnosis of epilepsy. This study aimed to correlate the clinico-electrographic and radiological features of seizure disorders in children attending a tertiary care centre in northern India. Children aged between one to 18 years with seizure episodes were included. Clinical details, including historical as well as physical findings, were evaluated along with EEG and neuroimaging (Magnetic resonance imaging). Details were noted on pre-designed proforma. Variables were analysed by using appropriate statistical methods. A total of 110 children with seizures were enrolled in the study. Male to female ratio was 1.6: 1, and the mean age of the study children was 8 years. The majority of the children were symptomatic for more than one year. The most common seizure type was Generalised Tonic Clonic Seizure (GTCS), and Hypoxic-ischemic Encephalopathy (HIE) sequelae was the most commonly attributed etiology, followed by neurocysticercosis. EEG and neuroimaging findings were found to correlate well with seizure semiology from history. The incidence of febrile seizures was 10% in this study, with nearly three-fourths of them being simple febrile seizures. Microcephaly and developmental delay were the most distinctive clinical correlates in children with seizures. There was a fair agreement between the types of seizures described in history and depicted on EEG with Cohen's kappa of 0.4. Also, there was a significant association between the type of seizures on EEG and the duration of symptoms.

Valproate-induced leucocytoclastic vasculitis: A rare case report

ABSTRACT Drug-induced vasculitis is essentially a small-vessel vasculitis. Histopathological changes in this condition are characterised by neutrophilic leucocytoclasia of the small vessels. To label it leucocytoclastic vasculitis, one must exclude other types of vasculitis where autoimmune workup comes into play. Antiepileptics, although rare, are also known to have such a presentation. We present a case of a 35-year-old male, a known case of hypertension and seizure disorder (on regular treatment), with a recent history of generalised tonic–clonic seizures, leading to a change in his antiepileptics. This was followed by extensive rash development, predominantly on his lower limbs, which was diagnosed as leucocytoclastic vasculitis, with sodium valproate (VPA) being the aetiology for the same. The offending drug was removed, and after treatment with steroids, the patient’s condition significantly improved.

Posterior Reversible Encephalopathy Syndrome After Inadvertent Dural Puncture Vs Bupivacaine-Induced Adverse Drug Reaction: A Case Report

A case involving a 29-year-old female patient with a known case of hypothyroidism at 38 weeks gestation. She developed a fronto-occipital, postural type of headache. This ensued on the second postoperative day after undergoing an unintended dural puncture with the introducer needle during spinal anesthesia for an elective cesarean section. It was initially treated as a post-dural puncture headache until she developed generalized tonic–clonic seizures the next day. Magnetic resonance imaging (MRI) of the brain exhibited features of posterior reversible encephalopathy syndrome (PRES). With anticonvulsants and antibiotics, the neurological symptoms subsided, and the patient was discharged home symptom-free. We call attention to the importance of suspecting PRES in obstetric cases with an inadvertent dural puncture in a normotensive patient. Neuroimaging plays a crucial role in making a diagnosis of headaches, especially during the peripartum period. Lastly, keeping in view, the potential medicolegal implications in such cases, further research seems vital, especially in the Asian population.

Clinical insights into juvenile myoclonic epilepsy: Our experience

Aim: Juvenile Myoclonic Epilepsy (JME) is predominantly observed during adolescence, characterized by myoclonic jerks exacerbated by sleep deprivation. Generalized tonic-clonic (GTC) and absence seizures are also common in JME. Patients are often photosensitive and usually require long-term treatment. This study aims to retrospectively evaluate the clinical, demographic, and electroencephalography (EEG) findings of patients diagnosed with JME at our Pediatric Neurology Clinic. Methods: Patients who were followed up at the Department of Pediatric Neurology between 2017-2022, diagnosed with JME based on clinical and EEG findings, and had at least one year of follow-up were included in this study. The clinical characteristics of the patients, as well as their diagnostic and follow-up EEG results, were retrospectively reviewed. Results: Of the patients, 12 (55%) were female and 10 (45%) were male. The mean age of the patients was 17±1 (range 14-18) years, and the average age at first seizure was 13±2 (range 12-16) years. When examining the types of seizures in our cases; 12 (55%) had myoclonic and GTC seizures, 4 (18%) had a combination of myoclonic-GTC-absence, and 6 (27%) had isolated myoclonic seizures. EEG results showed that 6 (27%) of the patients had spike and multiple spike waves at 3-5.5 Hz during sleep, while the remaining 16 (73%) had these during wakefulness. Fourteen (64%) of the patients responded to photic stimulation. Six (27%) of the patients had a first-degree relative with a history of epilepsy. A significant association was found between the presence of photosensitivity and family history of epilepsy (p=0.03). Conclusion: Juvenile myoclonic epilepsy is a type of epilepsy observed in the adolescent period, characterized by myoclonic jerks and photosensitivity. In patients with JME who have a family history of epilepsy, photosensitivity is more commonly observed

Perampanel as monotherapy or first adjunctive therapy in pediatric and adult patients with epilepsy: the first United States-based phase IV open-label ELEVATE study

ELEVATE (Study 410; NCT03288129) is the first prospective, multicenter, open-label, Phase IV study of perampanel as monotherapy or first adjunctive therapy in patients aged ≥ 4 years with focal-onset seizures or generalized tonic–clonic seizures in the United States. The study included Screening, Titration (≤ 13 weeks), Maintenance (39 weeks), and Follow-up (4 weeks) Periods. During Titration, perampanel was initiated at 2 mg/day and up-titrated to 4 mg/day at Week 3. Depending on response and tolerability, optional up-titrations to a maximum of 12 mg/day occurred. The primary endpoint was retention rate; additional endpoints included seizure-freedom rate, 50% responder rate, and incidence of treatment-emergent adverse events (TEAEs). At baseline, 10 (18.5%) patients were assigned to the monotherapy group and 44 (81.5%) patients to the first adjunctive therapy group. However, due to the addition of an anti-seizure medication along with perampanel on the first day of treatment, one patient was excluded from the monotherapy subgroup analyses. The mean perampanel exposure duration was 39.8 weeks and 32 (59.3%) patients completed the study. Retention rate at 12 months (or study completion) was 63.0% (monotherapy, 77.8%; first adjunctive therapy, 59.1%). Seizure-freedom rate during the Maintenance Period was 32.7% (monotherapy, 44.4%; first adjunctive therapy, 29.5%) and the 50% responder rate was 78.7% (monotherapy, 85.7%; first adjunctive therapy, 76.9%). TEAEs and serious TEAEs were reported by 88.9% (n = 48/54) and 7.4% (n = 4/54) of patients, respectively. Overall, the efficacy and safety of perampanel as monotherapy or first adjunctive therapy support the use of perampanel as early-line treatment for epilepsy.

Exploring the Spectrum: An Original Observational Study of Posterior Reversible Encephalopathy Syndrome from Tertiary Center in Kerala

Introduction: Posterior reversible encephalopathy syndrome (PRES) is a disorder of subcortical vasogenic edema causing reversible neurologic dysfunction which includes headache, altered sensorium, seizures, and visual disturbances. It is a relatively rare disease with a myriad of nonspecific symptoms with similar presentations to that seen in other diseases such as stroke and cortical venous thrombosis. Hence, accurate diagnosis is needed for early detection to guide the management of such patients. This is a single-center retrospective study from June 2022 to May 2024 to identify the demographic profile, etiologies, imaging features, and prognosis of patients diagnosed with PRES. Materials and Methods: Diagnosis of PRES was made on the basis of clinical history, neurological examination, and magnetic resonance imaging brain after ruling out other possible differential diagnoses. The patients who satisfied Fugate et al. criteria were included in the study. The data were collected from the hospital database. Patients with alternate diagnoses were excluded from the study. Results: There were 22 patients diagnosed with PRES. There were 20 (91%) females among the cohort. Eighteen (82%) patients had headache. Fourteen (64%) patients had seizures all of which were generalized tonic–clonic seizures. All had positive imaging findings with 2 patients having leptomeningeal enhancement in the presence of normal cerebrospinal fluid findings. Blood pressure (BP) was normal in 5 (22%) patients. Most of the patients were postpartum without a prior history of hypertension or preeclampsia. Conclusion: PRES is a reversible entity with the imaging findings primarily involving the posterior part of the brain. It can also involve anterior circulation and spinal cord. Normotensive PRES is possible and should not be overlooked if the patient has all features of PRES but has normal BP. It has a female predilection with the most vulnerable state being immediate postpartum. Although recurrence is possible, PRES does not require long-term medications. Complicated PRES presents with SAH and intracranial hemorrhage.

Clinical features and outcome of 10 dogs with suspected idiopathic vestibular epilepsy.

In humans, vestibular epilepsy (VE) is described as focal seizures with transient signs of vestibular disease. In dogs, 2 cases of vestibular episodes, called vestibular paroxysmia, are reported. The objective of this study was to define the clinical features, phenotypical manifestation, and outcome of suspected VE in dogs. Ten dogs with recurrent vestibular episodes. Retrospective study. Medical records between 2009 and 2023 were reviewed, and dogs with a normal neurological examination, a history of transient signs of vestibular disease, absence of abnormalities detected on blood exams and brain magnetic resonance imaging (MRI) or computed tomography (CT), besides a minimum 10-month follow-up were included. Clinical improvement was defined as a ≥50% reduction in frequency or the cessation of clinical signs after the onset of antiseizure medications (ASMs). Pugs were the most prevalent breed (5/10; 50%). In 2 cases, additional generalized tonic-clonic (GTC) seizures were reported. MRI exam was performed in most cases (9/10; 90%), whereas 1 dog underwent a CT scan (1/10; 10%). Electroencephalography (EEG) was carried out in 3 dogs that showed interictal spikes in the fronto-temporal and fronto-parietal areas. All cases received ASMs, with clinical improvement in 10/10 dogs (100%). The presence of GTC seizures, EEG interictal spikes, and responsiveness to ASMs supported the hypothesis of an epileptic origin of vestibular episodes and thus the existence of VE in these dogs, with a presumed idiopathic cause and apparent favorable outcome.

Generalized Tonic-Clonic Seizure in a Pediatric Patient with Sunflower Syndrome: A Case Report

Introduction: Sunflower syndrome (SFS) is a rare epileptic disorder characterized by a stereotypical hand- waving motion in front of the eyes when exposed to a light source. SFS is still poorly understood, but there are reports of patients who have concurrent seizure disorders as well, such as generalized tonic-clonic (GTC) and absence seizures. Case: We present a 10-year-old boy with a past medical history of sunflower syndrome, non-compliant with pharmacotherapy, who experienced his first GTC seizure. After carefully reviewing the patient's history, a decision was made to start the patient on valproic acid. Discussion: The question remains as to whether sunflower syndrome increases the risk of progressing to generalized seizures or if they are just more likely to suffer from both seizure disorders at the same time. It is possible that continuous electrical signals seen in sunflower syndrome could reach the threshold needed to progress to a GTC seizure; however, more research will need to be conducted on this topic. Conclusion: Although there is little research that indicates sunflower syndrome can progress to GTC seizures, our case highlights the importance of careful seizure management and the risks of untreated epileptic disorders.

Clozapine and Modified Electroconvulsive Therapy Resolving Forced Normalization: A Rare Case Report

Abstract Multiple studies have been done in the past to understand the relationship between seizure and psychosis, still no conclusive point has been found yet. The mechanism behind the relationship is unknown. Seizures may cause brain damage, increasing the chance of schizophrenia and psychosis, or the two illnesses may share etiological elements. We present a case of a 45-year-old male with a prior history of viral meningoencephalitis, axonal motor polyneuropathy, encephalopathy, and well-controlled generalized tonic–clonic seizures. However, the patient presented to us with a new onset of behavioral disturbances in the form of severe aggression, disinhibition, homicidality, and suicidality during treatment with multiple antiepileptics drugs but with no response to multiple antipsychotics. This patient had an adequate response to clozapine and modified electroconvulsive therapy. No such case has been reported in literature, till date. During the phase of forced normalization, the patient may experience behavioral issues following the management of their seizures with antiepileptic medications and the normalization of their electroencephalography. Any unusual behavior observed in epilepsy patients following the initiation of therapy and seizure control should alert clinicians to the likelihood of this condition.

CLINICAL FEATURES, ELECTROENCEPHALOGRAM FINDINGS AND TREATMENT OF SELF-LIMITED FOCAL EPILEPSIES OF CHILDHOOD

Objectives: The objective is to study the clinical features of self-limited focal epilepsies of childhood and to describe their electroencephalogram (EEG) findings and treatment. Methods: Twenty cases of self-limited focal epilepsies of childhood attending the Department of Neurology Government Medical College, Kozhikode, between August 2019 and July 2020 were included in the study. Details of history, examination, EEG, and treatment were collected. Results: The age at first seizure was 1.5–12 years. Most children were diagnosed with self-limited focal epilepsy of childhood with centrotemporal spikes. One child had Panayiotopoulos syndrome. Most of the seizures occurred during sleep. The majority were generalized tonic–clonic seizures. The majority had bilateral centrotemporal spikes in EEG. The child with Panayiotopoulos had bilateral spikes from the posterior head region. All were treated with antiepileptics. Conclusion: Self-limited focal epilepsy of childhood with centrotemporal spikes was the most common self-limited focal epilepsy of childhood. They had typical centrotemporal epileptiform discharges, seen bilaterally in most. The most commonly used drug was valproate. None had any major adverse effects on therapy.

Young-onset Alzheimer’s dementia mimicking progressive myoclonic epilepsy spectrum

BackgroundYoung-onset Alzheimer’s dementia (YOAD) refers to the onset of disease before the age of 40 years. Classical AD typically presents with memory impairment with involvement of other cognitive domains like language, visuospatial orientation. On contrary, YOAD shows phenotypic heterogeneity in the form of predominant psychiatric disturbances apart from dementia and rarely seizures, cerebellar ataxia. We report a 36-year-old lady with dementia, myoclonus, seizures and cerebellar ataxia of 3 year duration mimicking progressive myoclonic epilepsy (PME) spectrum who had novel missense mutation in PSEN1 gene (L226F) suggestive of YOAD.Case presentationA 36-year-old lady presented with seizures in the form of generalized tonic–clonic seizures of 3 year duration followed by multifocal myoclonic jerks, cognitive decline of 2 year duration and imbalance while walking of 1 year duration. Montreal cognitive assessment (MOCA) score was 6/30. Addenbrooke’s cognitive examination III (ACE-III) score was 16/100. The mental status examination showed diffuse impairment of lobar functions. Brain magnetic resonance imaging showed diffuse cerebral and cerebellar atrophy. Skin biopsy did not show Lafora bodies or dermal inclusions on electron microscopy. Whole exome sequencing showed pathogenic missense variant NM_000021.4(PSEN1):c.676C > T (p.Leu226Phe) in PSEN1 gene suggestive of YOAD.ConclusionsYOAD due to PSEN1 mutation has to be considered in patients with cerebellar ataxia, seizures, myoclonus, dementia with psychiatric disturbances. This case highlights the high index of suspicion for differential diagnosis of YOAD in patients with young-onset dementia with ataxia, seizures and myoclonus.

Distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its impact on the pharmacokinetics of valproic acid and carbamazepine: Prospective genetic association study conducted in Pakistani patients with epilepsy

BackgroundEthnic variation is one of the important factors in clinical practice that may affect the pharmacokinetics of drugs. The present study aims to determine the distribution pattern of UGT1A6 and UGT2B7 gene polymorphism and its possible impact on the metabolism of valproic acid (VPA) and carbamazepine (CBZ) in patients with epilepsy from Khyber Pakhtunkhwa region of Pakistan. Methods: After the enrollment of targeted patients, blood was collected for genotype analysis through Sanger sequencing. Plasma concentrations of VPA and CBZ were determined by reversed-phase high-performance liquid chromatography (HPLC) at the follow-up visit of third month from the initiation of therapy. The drug plasma levels were correlated with different genotypes of UGT1A6 and UGT2B7 to determine the impact of genetic polymorphism on the drug metabolism. Results: Of the total 178 epileptic patients, 120 subjects were prescribed VPA monotherapy while 58 subjects were given CBZ monotherapy. The mean age of the subjects was recorded as 26.1 ± 13.5 years with a predominance of the male gender. Generalized tonic-clonic (GTC) was the most prevalent type of seizure (82%) followed by partial seizure. Genotype analysis revealed that the frequency of homozygous and heterozygous variants of the targeted UGT genes were exceptionally high in the Khyber Pakhtunkhwa population compared to the ethnic groups of other countries. In UGT1A6-A552C and UGT1A6-A541G, AC and AG were the most prevalent genotypes with respective frequencies of 43.2% and 41.1% whereas, in UGT2B7-T161C and UGT2B7-G211T, TC and GG were the most prevalent genotypes with respective frequencies of 42.7% and 99.4%. In the VPA-treated group, the homozygous and heterozygous variants of UGT1A6-A552C and UGT1A6-A541G were significantly associated with lower drug plasma concentrations (p < 0.05). However, none of the genotypes of UGT2B7-T161C revealed any significant association with VPA plasma concentration (p greater than 0.05). In the CBZ-treated group, UGT gene polymorphisms were not recognized to cause alteration in the drug plasma concentrations (p greater than 0.05). Conclusion: The genetic polymorphisms of UGT1A6, but not UGT2B7 significantly affected the plasma levels of valproic acid. The chosen SNPs did not reveal a role in determining the plasma levels of carbamazepine.

ROLE OF MRI IN EVALUATION OF SEIZURE DISORDER

Objectives: The present study was conducted to identify structural abnormalities on the brain imaging that may be associated with the cause of seizures and to study the spectrum of MRI findings in patients with seizures. Methods: This time-bound descriptive study was conducted on 100 seizure patients in the department of radiodiagnosis of GMC, Patiala. Informed consent was obtained and then MR imaging of brain was done. The results were analyzed. Results: Mean age was 39.59±15.96 years (range: 18–85 years) with 70% male and 30% female patients. The majority of the patients (80%) had generalized tonic–clonic seizures, followed by myoclonic seizures (8%), simple partial seizures (5%), complex partial seizures (2%), absence seizures (2%), motor seizures (1%), febrile seizures (1%), and tonic seizures (1%). The mean seizure duration was 2.15±1.48 months. On magnetic resource imaging (MRI), 44% patients had normal MRI. In remaining patients, MRI findings were infarct with gliosis (20%), ring enhancing lesions (18%), atrophy (6%), neoplasm (4%), thrombosis (3%), venous malformation (2%), and developmental malformations (3%). Conclusion: The most common type of seizures is GTCS. MRI can be normal in the majority of the patients of seizures. Common MRI abnormalities were infarct with gliosis and ring-enhancing lesions. Hence, MRI plays a significant role in the initial evaluation of seizures patients to rule out any organic or developmental lesions.

Age-Related Changes in Epilepsy Characteristics and Response to Antiepileptic Treatment in Autism Spectrum Disorders.

Despite the high prevalence of epilepsy in individuals with autism spectrum disorder (ASD), there is little information regarding whether seizure characteristics and treatment effectiveness change across age. Using an online survey, seizure characteristics, effectiveness of antiepileptic treatments, comorbidities, potential etiologies, and ASD diagnosis were collected from individuals with ASD and seizures. We previously reported overall general patterns of treatment effectiveness but did not examine the effect of seizure characteristics or age on antiepileptic treatment effectiveness. Such information would improve the personalized medicine approach to the treatment of seizures in ASD. Survey data from 570 individuals with ASD and clinical seizures were analyzed. Seizure severity (seizure/week) decreased with age of onset of seizures, plateauing in adolescence, with a greater reduction in generalized tonic-clonic (GTC) seizures with age. Seizure severity was worse in those with genetic disorders, neurodevelopmental regression (NDR) and poor sleep maintenance. Carbamazepine and oxcarbazepine were reported to be more effective when seizures started in later childhood, while surgery and the Atkins/modified Atkins Diet (A/MAD) were reported to be more effective when seizures started early in life. A/MAD and the ketogenic diet were reported to be more effective in those with NDR. Interestingly, atypical Landau-Kleffner syndrome was associated with mitochondrial dysfunction and NDR, suggesting a novel syndrome. These interesting findings need to be verified in independent, prospectively collected cohorts, but nonetheless, these data provide insights into novel relationships that may assist in a better understanding of epilepsy in ASD and provide insight into personalizing epilepsy care in ASD.

Risk of Recurrence in Patients with an Unprovoked Tonic-Clonic Seizure and Generalized Epileptiform Discharges on EEG.

The decision to initiate treatment in patients with a first unprovoked seizure remains controversial. Studies have reported a recurrence rate ranging from 21-50%, but most have included patients with different etiologies, EEG findings, and seizure types. This study aimed to determine the risk of recurrence in patients with a first unprovoked generalized tonic-clonic (GTC) seizure with evidence of generalized spike-wave discharges (GSWD) on EEG and compare the efficacy of antiseizure medications (ASM) in preventing recurrence. This prospective study included consecutive patients who presented with a single GTC seizure, evidence of GSWD on EEG, and a follow-up period of at least one year. All patients underwent extensive evaluation, including a 3-hour sleep-deprived video-EEG recording and an epilepsy protocol brain MRI. Treatment with ASM was recommended for all patients. The decision regarding the specific ASM to be used was left to the treating physician's discretion. A total of 57 patients with a median age of 19 years were included. A total of 41 patients agreed to be started on an ASM while 16 declined. Seizure recurred in 6/41 (14.6%) patients in the treated group compared to 11/16 (68.8%) in the untreated group (P = 0.00006). Valproate was significantly more efficacious than levetiracetam or lamotrigine (P = 0.04). Of the 15 patients who discontinued ASM treatment after remaining seizure free for an average of 30 months, 6 (40%) experienced a seizure recurrence. Patients with a first unprovoked GTC seizure and evidence of GSWD on EEG have a high risk of recurrence if left untreated. Valproate is the most efficacious ASD for preventing recurrence in this population. A sizeable proportion of patients can be successfully tapered off medication after a period of seizure freedom. This study provides valuable information for guiding treatment decisions in this patient population.

Evaluation of postictal optic nerve sheath diameter at epileptic patients

IntroductionDuring a seizure, metabolic rate and, consequently, cerebral blood flow increase to provide the required maintenance energy. It is thought that this causes an increase in intracranial pressure, but there is no comprehensive research on this subject. In this study, we aimed to measure and follow optic nerve sheath diameter (ONSD) in patients who applied to the emergency department (ED) after generalized tonic-clonic (GTC) seizures and to gain information about intracranial pressure changes in epilepsy patients in the postictal period. Materials and MethodsThis was a prospective observational study. Patients already diagnosed with epilepsy who applied to the ED within one hour after GTC seizures were included. The ONSD of the patients was measured by the same radiologist three times in both eyes using ultrasonography at the time of admission and the fourth hour of follow-up. The seizure characteristics and measurements of the patients were recorded, and the changes in ONSD over time and correlations between seizure characteristics and ONSD were examined. ResultsSixty-six patients were included in the study. Thirty-four (51.5%) of the patients had seizures with auras. For both eyes, the first-hour ONSD values of the patients [right: 5.90 (5.73–6.16) mm, left: 5.86 (5.73–6.13) mm] were significantly higher than the fourth-hour ONSD values [right: 5.26 (5.19–5.40) mm, left: 5.28 (5.16–5.36) mm)] (p < 0.001 for both eyes). Additionally, the first- and fourth-hour ONSD values of patients with seizures with auras were significantly higher than those with seizures without auras (p < 0.001 for each condition). There was no correlation between other variables related to seizure type and ONSD. ConclusionThis study showed that after GTC seizures in epilepsy patients, ONSD increases in the first hour postictal and decreases over time. Another important result is that the increase in ONSD values in seizures with auras is significantly higher than in seizures without auras.

Clinical and genetic analysis of benign familial infantile epilepsy caused by PRRT2 gene variant.

This study presents the clinical phenotypes and genetic analysis of seven patients with benign familial infantile epilepsy (BFIE) diagnosed by whole-exome sequencing. The clinical data of seven children with BFIE diagnosed at the Department of Neurology, Children's Hospital Affiliated to Zhengzhou University between December 2017 and April 2022 were retrospectively analyzed. Whole-exome sequencing was used to identify the genetic causes, and the variants were verified by Sanger sequencing in other family members. The seven patients with BFIE included two males and five females ranging in age between 3 and 7 months old. The main clinical phenotype of the seven affected children was the presence of focal or generalized tonic-clonic seizures, which was well controlled by anti-seizure medication. Cases 1 and 5 exhibited predominantly generalized tonic-clonic seizures accompanied by focal seizures while cases 2, 3, and 7 displayed generalized tonic-clonic seizures, and cases 4 and 6 had focal seizures. The grandmother and father of cases 2, 6, and 7 had histories of seizures. However, there was no family history of seizures in the remaining cases. Case 1 carried a de novo frameshift variant c.397delG (p.E133Nfs*43) in the proline-rich transmembrane protein 2 (PRRT2) gene while case 2 had a nonsense variant c.46G > T (p.Glu16*) inherited from the father, and cases 3-7 carried a heterozygous frameshift variant c.649dup (p.R217Pfs*8) in the same gene. In cases 3 and 4, the frameshift variant was de novo, while in cases 5-7, the variant was paternally inherited. The c.397delG (p.E133Nfs*43) variant is previously unreported. This study demonstrated the effectiveness of whole-exome sequencing in the diagnosis of BFIE. Moreover, our findings revealed a novel pathogenic variant c.397delG (p.E133Nfs*43) in the PRRT2 gene that causes BFIE, expanding the mutation spectrum of PRRT2.

Novel ictal manifestations in Leucine rich Glioma Inactivated 1 Encephalitis - Transient, Alternating Hemi-body Paresthesias (P3-1.009)

<h3>Objective:</h3> To describe transient, alternating hemi-body paresthesias as an ictal manifestation of LGI1-encephalitis. <h3>Background:</h3> LGI1 encephalitis is associated with multiple seizure types, as well as cognitive decline, behavioral changes, &amp; hyponatremia. There is marked heterogeneity in seizure subtypes associated with LGI1 encephalitis. <h3>Design/Methods:</h3> Case Report <h3>Results:</h3> A 54 years old patient began experiencing paroxysmal episodes of nausea, rising epigastric sensation (NRES), and three-months later he presented with cluster of two generalized tonic clonic (GTC) seizures. GTCs and NRES resolved with levetiracetam (LEV) and lacosamide (LCS) given in the ER. At 6-months symptom onset, he reported focal-aware seizures with transient, alternating hemi-body paresthesias (TAHP), spreading from head to right, left, or bilateral hemi-body. These increased in frequency &amp; duration. Cognitive difficulties followed soon after. <h3>Neuroimaging:</h3> At presentation MRI was normal. After his 4^th GTC, MRI showed expansile T2 hyperintense mass in right hippocampus. Serial MRIs first showed evolution to right mesial temporal sclerosis. <h3>Neurophysiology:</h3> At presentation EEGs were normal. Serial ambEEGs/vEEGs captured multiple paroxysmal episodes of NRES and TAHP – neither with electrographic correlate. Additionally, patient had numerous multifocal electrographic seizures but without clinical correlate nor awareness. <h3>Clinical Diagnosis and Prognosis:</h3> At 19 months after symptom onset, CSF showed LGI1 positive Antibodies. Systemic imaging was negative for occult malignancy. Steroids followed by IVIG and Rituximab were initiated. TAHP as well as electrographic seizures gradually resolved completely at 26-months after symptom onset. Repeat CSF analysis was negative for LGI-1. <h3>Conclusions:</h3> This patient demonstrated electroclinical dissociation in his ictal presentation. There were no electrographic correlates to reported NRESs and TAHPs, and no clinical correlate to numerous, multifocal electrographic-seizures. Yet, all these phenomena gradually resolved with immunotherapy. It is common to downplay or dismiss reported symptoms of TAHP, but this diagnostic inertia may lead to delayed diagnosis and treatment of inflammatory processes, such as LGI1-associated-encephalitis. <b>Disclosure:</b> Dr. Tripathi has nothing to disclose. Dr. Khan has nothing to disclose. Dr. Aydemir has nothing to disclose. The institution of Dr. Afra has received research support from LivaNova and UCB. Dr. Afra has a non-compensated relationship as a board member (representing AAN) with CoA-NDT that is relevant to AAN interests or activities.