Common Seizure Type Research Articles

Genotypes and phenotypes of IQSEC2 gene variants related epilepsy

Objective: To analyze the genotypes and clinical phenotypes of patients with epilepsy associated with IQSEC2 gene variants. Methods: The genotypes, seizure types, electroencephalogram, neuroimage of 6 patients with IQSEC2 gene variants in the Department of Pediatrics, Peking University First Hospital from July 2019 to October 2021 were analyzed. Results: There were 5 males and 1 female. Six variants were de novo, including 2 frameshift variants (c.3801_3808dup/p.Q1270Rfs*130, c.1459_1460delAT/p.M487Vfs*2), 2 nonsense variants (c.3163C>T/p.R1055*, c.1417G>T/p.E473*), 1 in-frame deletion (c.2295_2297del/p.N765del) and 1 missense variant (c.2293A>G/p.N765D). Age at seizure onset ranged from 3 months to 2 years and 5 months. Multiple seizure types were observed, including epileptic spasms in 5 patients, focal seizures in 5 patients, tonic seizures in 3 patients, myoclonic seizures in 3 patients, atypical absence seizures in 2 patients and atonic seizures in 2 patients. All 6 patients showed global developmental delay before seizure onset. There were other clinical manifestations, including autistic features in 3 patients, microcephaly in 3 patients, dystonia in 2 patients and binocular esotropia in 1 patient. The electroencephalogram showed slow background activity and hypsarrhythmia in all 6 patients. Brain magnetic resonance imaging showed abnormal in 5 patients and normal in 1 patient. Five patients were diagnosed with infantile spasms. Among them, 4 patients had late-onset infantile spasms. One patient was unclassified developmental epileptic encephalopathy. The age of last follow-up ranged from 3 years and 2 months to 7 years and 2 months. All 6 patients still had seizures after multiple anti-seizure medications. Conclusions: The seizure onset of patients with IQSEC2 gene variants usually begins after 1 year of age. The common seizure types include epileptic spasms and focal seizures. Patients usually have a global developmental delay before seizure onset. IQSEC2 variants could be related to developmental and epileptic encephalopathy, and most patients are diagnosed with late onset infantile spasms. Epilepsy associated with IQSEC2 gene variants is usually refractory.

Long-term follow-up of vagus nerve stimulation in drug-resistant KCNT1-related epilepsy: a case presentation

BackgroundThe KCNT1 gene encodes a Na+-activated K+ channel. Gain-of-function mutations of KCNT1 lead to autosomal dominant sleep-related hypermotor epilepsy, early-onset epileptic encephalopathy, focal epilepsy and other epileptic encephalopathies. In this paper, we report a boy carrying a KCNT1 gene mutation, who presented with drug-resistant focal-onset seizures. He had decreased seizure frequency and improvement of background changes in electroencephalography (EEG) after vagus nerve stimulation (VNS).Case presentationThe case was a nonverbal 9-year-old male who presented with drug-resistant focal-onset seizures since age 3 and had underwent VNS therapy for 2 years. He had hypermotor symptoms, automatism and bilateral asymmetric tonic seizures with cognitive decline and aphasis from age 3. The patient had a variety of seizure types that only occurred at night. The most common seizure type was automatisms, and ictal video EEG showed high-amplitude delta waves, followed by a fast rhythmic sharp activity in the mesial frontal and bitemporal regions. The patient was diagnosed with KCNT1-related epilepsy, epileptic encephalopathy and cognitive disorder. He was refractory to multiple anti-seizure medicines (ASM) and ketogenic diet. After VNS treatment at age 7, the frequency of seizures was reduced significantly and EEG was improved in background slowing.ConclusionsChildren with KCNT1-related epilepsy usually have early onset of disease, are nonverbal, and are refractory to ASM. This boy with drug-resistant KCNT1-related epilepsy showed significantly reduced seizure frequency after VNS. This report may provide reference for management of cases of KCNT1-related epilepsy.

A Prospective Hospital-Based Study on the Clinico-Etiological Profile of the First Episode of a Seizure in Children.

Background This study aims to examine the clinico-etiological profile of children with the first episode of a seizureand categorize seizure types based on age groups in a tertiary care hospital. Methodology This was aprospective observational studyconducted at a tertiary care medical institute in India over two years. Children (one month to 12 years of age) with the first episode of a seizure were included in the study population. The data collected included demographic profile, history, examination, biochemical profile, electroencephalogram (EEG), and neuroimaging.Children were categorized as generalized-onset, focal-onset, and unknown-onset seizures based on the International League Against Epilepsy2017 seizureclassification. Children were also classified according to specific etiologies such as structural, metabolic, or other specific causes. All the children were followed up at the hospital's outpatient clinic or through a telephonic interview. Results A total of 220 children were examined in this study. Among them, 64% were male and 36% were female, with a male-to-female ratio of 1.75:1. Among the 220 children, 21.8% had a family history of seizure. The most common type of seizures were generalized-onset seizures (n = 110, 50%), followed by focal-onset seizures (n = 96, 43.6%). Overall, 9% of children presented with status epilepticus as their first-episode seizure. An abnormal EEG was recorded for 122 (76%) children. While 60% of children had abnormal neuroimaging findings, the remaining had normal neuroimaging. Febrile seizures (n = 92, 41.9%) were the most common cause of the first episode of a seizure. Most of the febrile seizures occurred between the ageof one and four (n = 60, 65.2%). Epilepsy syndromes were the second most common etiology, followed by central nervous system (CNS) infections, structural brain abnormalities, metabolic disorders, vascular lesions, toxins, and immune-mediated causes, in that order. In 14 (6.36%) children, the etiology was unknown at the time of the study. Conclusions First-episode seizures in children cause physical, mental, and financial stress on the parents. The collection of detailed history, examinations, and appropriate investigations can help identifythe etiology of seizures. It was possible to determine the etiology of the first episode of a seizure in the majority of the patients. Generalized-onset seizures were the most common. Febrile seizures, epilepsy syndrome, CNS infections, vascular lesions, and metabolic disorders were the main etiological factors, in that order.

Genetics and clinical phenotypes of epilepsy associated with chromosome 2q24.3 microdeletion

Objective: To summarize the genetics and clinical phenotypes of epilepsy children with 2q24.3 microdeletion. Methods: All the patients with 2q24.3 microdeletion were retrospectively collected at the Pediatric Department of Peking University First Hospital from March 2017 to July 2022. The features of clinical manifestations, electroencephalogram (EEG), and neuroimaging were analyzed. Results: There were 13 patients with 2q24.3 microdeletion were included. All 13 patients had de novo copy number variation (CNV) with a deletion size ranged 0.18-7.31 Mb. The main pathogenic genes in the region were SCN3A, SCN2A, TTC21B, SCN1A and SCN9A genes. Among the 13 patients, 7 were boys, and 6 were girls. The onset age of epilepsy was 3.3(2.5, 6.0) months. Multiple seizure types were observed, including focal seizures in 13 patients, generalized tonic-clonic seizures (GTCS) in 6 patients, myoclonic seizures in 3 patients, epileptic spasm in 2 patients, and tonic seizures in 2 patients. Seizures were fever sensitivity in 9 patients. Status epilepticus was observed in 6 patients. One case had normal mental motor development and 12 cases had different degrees of developmental delay. Six patients had craniofacial abnormality, 1 had six-finger deformity of the right thumb, and 1 had multiple system abnormalities. EEG showed focal discharge in 3 cases, multifocal discharges in 5 cases, multifocal and generalized discharges in 1 case. Brain magnetic resonance imaging (MRI) showed enlargement of subarachnoid spaces in the frontal and temporal region in 4 patients, enlargement of lateral ventricle in 4 patients and delayed myelination of white matter in 1 patient. Dravet syndrome was diagnosed in 5 cases. The age at the last follow-up were 2.5(1.4,5.5) years, 1 patient was seizure free longer than 1 year, and 12 patients still had seizures. Conclusions: The epilepsy associated with 2q24.3 microdeletion is mainly induced by the deletion of SCN3A, SCN2A and SCN1A genes. The seizure onset age of 2q24.3 microdeletion related epilepsy was in infancy. Multiple seizure types are observed and the common seizure types include focal seizures and GTCS. Most patients have fever sensitivity and status epilepticus. Most patients have developmental delay. The phenotype of patients with deletion of SCN3A and SCN2A gene is more severe than that of patients with deletion of SCN1A gene only.

Etiology of new-onset seizures in adult patients of different age groups presenting to the emergency department in North India and their outcomes.

Seizures are one of the most common neurological emergencies encountered in both urban and rural India. There is only limited research work on the etiology of new-onset seizures in adult patients of different age groups presenting to the emergency department, especially from the Indian sub-continent. A new-onset seizure can be the first presentation of stroke, or it may be a symptom of brain infections, metabolic abnormality, brain tumor, systemic disease, or an early phase of epilepsy, which needs scrutiny and appropriate management. A dedicated study of the underlying etiology of new-onset seizures among different age groups and their incidence and prevalence can help in the prognostication and clinical management of these patients. This was a prospective observational cross-sectional study conducted in the Emergency Medical Out-patient Department and emergency medical ward of the Post-graduate Institute of medical education and research, Chandigarh. In our research, males out-numbered females. The most common seizure type recorded in our study was generalized tonic-clonic. In the younger age group between 13 and 35 years, infective etiologies were dominant. In the middle age group between 36 and 55 years, cerebrovascular accidents were the dominant etiology, followed by infective causes and metabolic causes. In the older age group above 55 years, the most dominating etiology found was cerebrovascular accident. Almost 72% had abnormal brain imaging. The most common abnormality found was ischemic infarcts. The second most common abnormality detected was a meningeal enhancement. A small percentage of patients had an intra-cranial bleed, and a very small percentage had a subarachnoid hemorrhage. In younger patients, infections such as tubercular and pyogenic meningitis and cerebral malaria are the most common causes of new-onset seizures, followed by malignancy and metabolic causes, in descending order. In the middle age group, stroke is the most common etiology, followed by central nervous system (CNS) infections and metabolic causes, in descending order. In elderly patients, stroke is the leading etiology for new-onset seizures. Physicians working in rural and remote areas routinely face challenges in managing patients with new-onset seizures. Knowledge of different etiologies in different age groups will equip them to make informed decisions regarding investigations and treatment of patients with new-onset seizures. It also encourages them to aggressively search for CNS infections, especially in younger patients.

Lennox Gastaut Syndrome – A strategic shift in diagnosis over time?

BackgroundLennox Gastaut Syndrome (LGS) is an epilepsy syndrome presenting in childhood, classically characterised by a triad of cognitive or developmental impairment, multiple seizure types and EEG features of slow-spike waves (SWW), with or without paroxysmal fast activity (PFA) in sleep. There is increasing scientific opinion in favour of a less rigid approach to LGS diagnosis and this clinical audit attempts to shed light on how the LGS diagnostic criteria used may have changed over time, in a large tertiary paediatric neurology unit (Great Ormond Street Hospital (GOSH), London, UK). MethodsElectronic patient records were reviewed for patients with a diagnosis of LGS made at GOSH within two time periods, 2014-2017 and 2018-2021. Patient demographics, aetiology, clinical features, EEG features, investigation results and medications were reviewed. Findings were compared against the International League Against Epilepsy (ILAE) Diagnostic Manual criteria for LGS diagnosis (the classical triad plus PFA in sleep). Existing GOSH data regarding total number of new epilepsy referrals to GOSH and ICD10 codes (including all epilepsy and epilepsy syndromes) per year were also used to review LGS diagnoses as proportions of new epilepsy referrals and total number of epilepsy diagnoses. Results5 LGS diagnoses were made in 2014-2017 compared to 40 diagnoses made in 2018-2021. There was a steep increase in the number of LGS diagnoses and LGS diagnoses as a proportion of total epilepsy diagnoses in the last 4 years, coinciding with the licensing of cannabidiol for management of LGS in the UK in 2018. There was a much less marked increase in LGS diagnoses as a proportion of epilepsy referrals from 2018 (and an as yet unexplained high proportion in 2014). The 2014-17 cohort fit a more classical LGS diagnostic criteria of the triad plus presence of PFA on sleep EEG (100% in 2014-17 vs 68% in 2018-21), with a more classical preceding history of infantile spasms (80% in 2014-17 vs 23% in 2018-21). Common seizure types were similar in both groups and a male preponderance was also noted in both groups. Cannabidiol use in LGS patients has also increased over time, all prescribed after 2018. ConclusionsDespite the limitations of the small numbers of patients in each group, the results of this clinical audit are in keeping with changing clinical trends in favour of a broader LGS diagnostic criteria. The combination of this less rigid diagnostic criteria, the steep increase in diagnosis seen from 2018 onwards (coinciding with UK cannabidiol licencing for LGS in 2018) and the fact that most of the LGS patients in both groups are currently prescribed cannabidiol, may reflect a strategic shift in attitude towards LGS diagnosis or an increase in referrals for LGS, possibly to help facilitate access to novel treatments.

Predictors of abnormal electroencephalogram and neuroimaging in children presenting to the emergency department with new-onset afebrile seizures

BackgroundElectroencephalogram and neuroimaging in pediatric patients with new-onset afebrile seizures are performed to detect any underlying pathological severe condition that may require emergent neuro-intervention and guide prognosis. This study aims to determine the predictors of abnormal EEG and neuroimaging in children presenting to the emergency department with new-onset afebrile seizures.MethodsThis single-center cross-sectional study was conducted at a tertiary care hospital in Karachi, Pakistan, from July 01, 2019, to June 30, 2021. All patients aged one month to 18 years who presented with new-onset afebrile seizures were included. Demographic and clinical data were recorded, including age, gender, seizure type, duration of seizure, associated signs and symptoms, and disposition. Multivariable regression analysis was applied to determine the predictors of abnormal EEG and CT scan or MRI findings.ResultsOut of 201 participants, most patients were in the infantile age group (41.3%), with an equal gender distribution. The most common type of seizure was generalized onset 152 (75.6%). EEG was performed on a total of 126 patients (62.7%) and out of these patients, 67 patients (53.1%) had abnormal findings. In a multivariable analysis, the age group of 5 to 10 years and seizure duration of more than 5 min were significantly associated with higher odds of abnormal EEG findings. In contrast, only the focal onset of seizure was significantly associated with higher odds of abnormal neuroimaging findings.ConclusionThe study emphasizes the need for a protocol regarding the performance of EEG and neuroimaging in children presenting to the ED with new-onset afebrile seizures that would aid emergency physicians in the direction of appropriate management, thus ensuring a better quality of patient care and outcomes.

Febrile Seizures Cause Depression and Anxiogenic Behaviors in Rats.

Febrile seizure (FS) is a common type of seizure occurring in human during infancy and childhood. Although an epileptic seizure is associated with psychiatric disorders and comorbid diseases such as depression, anxiety, autism spectrum disorders, sleep disorders, attention deficits, cognitive impairment, and migraine, the causal relationship between FS and psychiatric disorders is poorly understood. The objective of the current study was to investigate the relationship of FS occurrence in childhood with the pathogenesis of anxiety disorder and depression using an FS rat model. We induced febrile seizures in infantile rats (11 days postnatal) using a mercury vapor lamp. At 3 weeks and 12 weeks after FS induction, we examined behaviors and recorded local field potentials (LFPs) to assess anxiety and depression disorder. Interestingly, after FS induction in infantile rats, anxiogenic behaviors and depression-like phenotypes were found in both adult and juvenile FS rats. The analysis of LFPs revealed that 4–7 Hz hippocampal theta rhythm, a neural oscillatory marker for anxiety disorder, was significantly increased in FS rats compared with their wild-type littermates. Taken together, our findings suggest that FS occurrence in infants is causally related to increased levels of anxiety-related behaviors and depression-like symptoms in juvenile and adult rodents.

A Retrospective Cross Sectional Study on Clinical Profile of Neonatal Seizures in a Tertiary Care Government Hospital, Western India

Background: Convulsion during the first few weeks of life in a newborn is a frequent problem. Such disturbances may have many causes contributing to their etiology and have prognostic significance as well. Objective: This study aimed to determine the etiology, effect of gestational age, onset, types, and mortality of neonatal convulsions. We also aimed to evaluate the clinical parameters, computed tomography (CT) brain scan, neurosonogram, metabolic profile, and cerebrospinal fluid analysis as well as the response of antiepileptic drugs and outcome in these babies. Materials and Methods: A retrospective cross-sectional study was done at the neonatal intensive care unit of a tertiary care teaching hospital. The study group comprised 358 neonates with neonatal seizures (163 inborn and 195 referred) admitted over 2 years. Data were entered in Microsoft Excel and analyzed in SPSS version 12 (Chicago, Illinois, USA). Results: Out of 10,232 live births, 163 had seizures in the neonatal period, giving an incidence of 15.9/1000 live births. The most common type of seizure was tonic accounting for 33.2%. The most common etiology was perinatal asphyxia – 50.8%, followed by central nervous system infection – 20.1%. One hundred and twenty-six out of 358 patients expired contributing to mortality of 35.1%. All the newborns with perinatal asphyxia had seizures within the first 7 days. Conclusions: Improvement in antenatal and perinatal care with early identification of high-risk mothers will reduce the incidence of birth asphyxia and thereby of neonatal convulsions. Subtle seizures are most common and should not be missed. CT brain scan and neurosonogram are useful in the early detection of cerebral edema, ischemic hypodensities, and hemorrhage which contributes to prognostic significance.

Pattern and etiology of early childhood epilepsy: An Experience at a tertiary care University Center.

To investigate seizure characteristics, types, and define the etiology of epilepsy in children aged ≤2 years using the 2017 ILAE classification. A retrospective chart review was conducted at King Khalid University Hospital, King Saud University Medical City, Riyadh, Kingdom of Saudi Arabia for children below 2 years of age diagnosed with epilepsy, and on anti-seizure medications from January 2017 - December 2018. The collected data involved detailed information on the patients' seizure, electroclinical, neuroimaging, laboratory evaluations, and underlying etiology. One- hundred and fifty patients were included in the study and classified according to etiology into: genetic (43, 28.7%), structural (41, 27.3%), metabolic (10, 6.7%), infectious (8, 5.3%), immune-mediated (1, 0.7%) and unknown (47, 31.3%) groups. The most common seizure types were generalized epilepsy, among which generalized tonic-clonic seizures occurred in 56 (37%) patients, followed by tonic seizures in 31 (21%), infantile spasm in 19 (13%), myoclonic seizures in 4 (2.7%), atonic seizures in 6 (4%), and focal seizures in 33 (22%) patients. Global developmental delay and abnormalities in both neurologic exam and neuroimaging were more common in the structural and genetic groups. Electroencephalography was abnormal in 82 (55%) patients, including the majority of the structural group (26, 63.4%). The etiology of epilepsy in this cohort remains undetermined (unknown) in a large proportion of cases, followed by genetic and structural causes. This result added to the published international data about epilepsy in the first 2-years of life.

DYNC1H1-related epilepsy: Genotype-phenotype correlation.

To explore the phenotypic spectrum and refine the genotype-phenotype correlation of DYNC1H1-related epilepsy. The clinical data of 15 patients with epilepsy in our cohort and 50 patients with epilepsy from 24 published studies with the DYNC1H1 variants were evaluated. In our cohort, 13 variants were identified from 15 patients (seven males, eight females). Twelve variants were de novo and seven were new. Age at seizure onset ranged from 3 months to 4 years 5 months (median age 1 year). Common seizure types were epileptic spasms, focal seizures, tonic seizures, and myoclonic seizures. Mild-to-severe developmental delay was present in all patients. Six patients were diagnosed with West syndrome and one was diagnosed with epileptic encephalopathy with continuous spikes and waves during slow sleep (CSWS). Collectively, in our cohort and published studies, 17% had ophthalmic diseases, 31% of variants were located in the stalk domain, and 92% patients with epilepsy had a malformation of cortical development (MCD). The phenotypes of DYNC1H1-related epilepsy included multiple seizure types; the most common epileptic syndrome was West syndrome. CSWS is a new phenotype of DYNC1H1-related epilepsy. One-third of the variants in patients with epilepsy were located in the stalk domain. Most patients had a MCD and developmental delay. Nearly 40% of patients with DYNC1H1 variants had epilepsy. Ninety-two percent of patients with DYNC1H1-related epilepsy had malformation of cortical development. More than 10% of patients with DYNC1H1-related epilepsy were diagnosed with West syndrome. Continuous spikes and waves during slow sleep could be a new phenotype of DYNC1H1 variants. One-third of the variants in patients with epilepsy were located in the stalk domain.

Electroencephalographic Findings, Antiepileptic Drugs and Risk Factors of 433 Individuals Referred to a Tertiary Care Hospital in Ethiopia.

Little is known about the characteristics of electroencephalogram (EEG) findings in epileptic patients in Ethiopia. The objective of this study was to characterize the EEG patterns, indications, antiepileptic drugs (AEDs), and epilepsy risk factors. A retrospective observational review of EEG test records of 433 patients referred to our electrophysiology unit between July 01, 2020 and December 31, 2021. The age distribution in the study participants was right skewed unipolar age distribution for both sexes and the mean age of 33.8 (SD=15.7) years. Male accounted for 51.7%. Generalized tonic clonic seizure was the most common seizure type. The commonest indication for EEG was abnormal body movement with loss of consciousness (35.2%). Abnormal EEG findings were observed in 55.2%; more than half of them were Interictal epileptiform discharges, followed by focal/or generalized slowing. Phenobarbitone was the commonest AEDs. A quarter (20.1%) of the patients were getting a combination of two AEDs and 5.2% were on 3 different AEDs. Individuals taking the older AEDs and those on 2 or more AEDs tended to have abnormal EEG findings. A cerebrovascular disorder (27.4%) is the prevalent risk factor identified followed by brain tumor, HIV infection, and traumatic head injury respectively. High burden of abnormal EEG findings among epileptic patients referred to our unit. The proportion of abnormal EEG patterns was higher in patients taking older generation AEDs and in those on 2 or more AEDs. Stroke, brain tumor, HIV infection and traumatic head injury were the commonest identified epilepsy risk factors.

A novel technique for frame-based MR-guided laser ablation in an infant.

Hypothalamic hamartomata (HH) not only are usually associated with drug-resistant epilepsy but can also cause precocious puberty and developmental delay. Gelastic seizures are the most common type of seizures. Magnetic resonance image (MRI)-guided laser interstitial thermal therapy (LiTT) is a technique whereby a laser fibre is stereotactically implanted into a target lesion and heat is used to ablate whilst tissue temperature is monitored using MRI thermography. MRI-guided LiTT has proven to be an effective and safe method to treat HH. To use the LiTT system, highly accurate stereotactic fibre implantation is required. This can be achieved by the use of frame-based or frameless neuronavigation techniques. However, these techniques generally involve rigid head immobilisation using cranial pin fixation. Patients need sufficient skull thickness to safely secure the pins and sufficient skull rigidity to prevent deformation. Hence, most of the clinical reports on the use of LiTT for children describe patients aged 2years or older. We report a novel and practical technique of using a paste cast helmet to securely place a stereotactic frame in a 5-month-old infant with HH and drug-resistant epilepsy that allowed the successful application of MRI-guided LiTT.

Genetic and phenotypic spectrum of Chinese patients with epilepsy and photosensitivity.

ObjectiveTo determine the contribution of genetic etiologies in epilepsy with photosensitivity.MethodsA total of 35 epileptic patients with genetic photosensitivity from January 2019 to May 2021 were analyzed.ResultsPathogenic variants were identified in 35 patients, including SCN1A(7) CHD2(6), TPP1(3), SYNGAP1(3), GABRA1(2), GABRG2(1), KCTD7(1), MFSD8(1), KCNC1(1) GBA(1), CACNA1A(1), KCNMA1(1), FLNA(1), SZT2(1), SLC2A1(1), 5q33.2-34del(1), and mitochondrial variants(3). The predominant epileptic syndrome was progressive myoclonus epilepsy (PME) and Dravet syndrome, while the most common seizure type in both spontaneous seizures and photoconvulsive response (PCR) was myoclonic seizures. The abnormal EEG background and brain MRI were mainly seen in the PME patients. In PME, initial low-frequencies (1–6 Hz) photosensitivity was observed in 70% (7/10) of patients. Among the other patients, 12 patients (48.0%, 12/25) had photosensitivity at initial low -frequencies and 12 patients (48.0%, 12/25) had photosensitivity at initial middle frequencies (6–20 Hz). At the 1-year follow-up, 77.7% (21/27) still remained photosensitive.ConclusionThe most common genes for epilepsy with genetic photosensitivity are SCN1A and CHD2, and the most common syndromes are PME and Dravet syndrome. MFSD8, KCNMA1, SZT2, FLNA, and SLC2A1 variants might be candidate genes for photosensitivity. PPRs at initial low-frequencies may be a marker of PME, and the most typical feature of genetic photosensitivity may be low- or middle- frequencies induced PPRs. Photosensitivity in epilepsy with genetic photosensitivity may be difficult to disappear in a short period of time.

Non-convulsive status epilepticus in the setting of cannabidiol adjunctive therapy

Anti-seizure medications (ASMs) can cause non-convulsive status epilepticus (NCSE), but account for less than 5% of all NCSE cases. We present a 63-year-old, right-handed male with a history of intractable focal epilepsy since age seven years old, whose bouts of NCSE were triggered by cannabidiol (CBD) adjunctive therapy. His most common seizure types included focal myoclonic or tonic seizures with vocalization, usually with awakening, which occurred on a monthly basis despite the combination of tiagabine, perampanel, levetiracetam, lacosamide and clonazepam. After CBD was initiated, he began to exhibit episodes of prolonged confusion, at times with myoclonic or tonic seizures. Increasing CBD doses led to more frequent and prolonged episodes. The confusional episodes occurred predominantly in the morning, with spontaneous resolution by the afternoon. During one of these episodes, he was hospitalized, and NCSE was confirmed by video-EEG monitoring. CBD was withdrawn and the patient had no further episodes of NCSE. While CBD can cause NCSE, the medication interaction between CBD and tiagabine also needs to be considered.

A CRITICAL REVIEW OF KUSHMANDAGHRITAIN THE MANAGEMENT OF GENERALIZED TONIC-CLONIC SEIZURES

Epilepsy is a chronic disorder characterized by the appearance of frequent seizure episodes associated with a diverse group of symptoms. Generalized tonic-clonic seizure is the most common type of motor seizure usually associated with impaired awareness or complete loss of consciousness. Despite all the available medications one third of the people with epilepsy still seems to be severely affected. Management of Epilepsy still remains a challenge to the medical community. Therapeutic add-ons to the mainline antiepileptic drugs might help in overcoming this challenge.Kushmanda ghrita1is one of the simple formulations described in Ashtanga Hridaya for the management of apasmara (epilepsy).This review focuses on the comprehensive management of generalized tonic-clonic seizure with a unique formulation Kushmandaghritapracticed sinceageoldd.

Seizures and EEG characteristics in a cohort of pediatric patients with dystroglycanopathies

PurposeTo delineate the seizure type, phenotype and V-EEG patterns of dystroglycanopathy (DGP) and correlate them with the neuroradiological and genetic results. MethodsPatients with seizures were screened from our dystroglycanopathy database from January 2010 to March 2021. Detailed clinical information, including seizure type, brain magnetic resonance imaging (MRI), EEG and genetic analysis, was collected. ResultsThirteen patients (15.1%, 13/86) had seizures. Most patients had a severe phenotype. The mean age at first seizure onset was 2 years and 8 months. The most common seizure type was generalized tonic-clonic seizure (GTCS), with 92.3% (12/13) induced by fever. Three patients were diagnosed with epilepsy. Most patients did not take any medicine. A few patients had irregular use of antiseizure medications (ASMs). Of the 13 patients, seven patients were diagnosed with MEB, four patients with POMGNT1 mutations, two with ISPD mutations, and one with POMT1 mutation. Three patients were diagnosed with FCMD with FKTN mutations. Two patients were diagnosed with CMD-MR, one patient with ISPD mutation, and one with POMT1 mutation. One patient was diagnosed with LGMD with FKRP mutation. Nine patients underwent EEG examination, and eight patients had abnormal EEG results, including abnormal background activities in three patients, abnormal background activities combined with paroxysmal discharges in three patients, pure paroxysmal discharges in one patient and positive phase sharp waves in the occipital region in one patient. For radiology, brain MRI was available for 12 patients. The brain MRI of nine patients showed type II lissencephaly. Two patients showed cerebellar hypoplasia and brainstem hypoplasia. One patient had a normal brain MRI result. Patients with type II lissencephaly usually had abnormal background activities and paroxysmal discharges. ConclusionThe seizure phenotype of dystroglycanopathy (DGP) is characterized by GTCS, which was the most common seizure type, while focal seizures and epileptic spasms could also occur in DGP patients. Most seizures were induced by fever. Seizures were relatively more frequent in severe phenotypes of DGP, such as FCMD and MEB. Abnormal background activities were the most common EEG patterns, which were closely related to type II lissencephaly.

Phenotype of Idiopathic Epilepsy in Great Swiss Mountain Dogs in Germany-A Retrospective Study.

Genetic predisposition of idiopathic epilepsy (IE) has been demonstrated in individual breeds. According to the responsible breeding association in Germany, the average incidence of registered Great Swiss Mountain Dogs (GSMDs) with seizures between the years 1999 and 2019 is 2.56%, a genetic predisposition in this breed is suspected. To describe the seizure phenotype and to examine seizure causes, a retrospective, questionnaire-based study was performed. In cooperation with the Swiss Mountain Dog Association of Germany e.V. (SSV e.V.), 114 questionnaires filled in by owners of GSMD displaying seizures and filled in by their respective veterinarians between the years 2005–2021 were evaluated. Seizure characteristics, clinical and further examinations, treatment, treatment responses, and pedigree information were collected. In this study, 94 (83.06%) dogs had IE (suspected genetic epilepsy) confirmed with confidence level TIER 1, 2, or 3. The remaining 20 dogs showed the signs of structural epilepsy, reactive seizures, or epilepsy of unknown cause and were therefore excluded from further analysis. The average age at seizure onset was 28.83 months. Male GSMDs were significantly more often affected by IE than females. The most common seizure type was focal evolving into generalized seizures (64.5%). Seizures often began with vomiting, retching, or salivation. Cluster seizures (CS) (48.9%) and status epilepticus (SE) (37.2%) were observed in a large proportion of dogs. During the observation time, a total of 49 animals (52.13%) died. Out of those, 19 dogs (20.21%) were euthanized in SE or during CS and 14 dogs (14.9%) died spontaneously during CS or SE. The median age at death was 4 years, and the median survival time for the time, when the dog was suffering from seizures, was found to be 18 months. Both occurrence of CS (p = 0.0076) and occurrence of SE (p = 0.0859) had an impact on survival time. In GSMD, idiopathic epilepsy presents with a severe phenotype with frequently occurring CS and SE. This study could serve as basis for further genetic evaluations as well as to provide individual treatment recommendations.

Snotwatch: an ecological analysis of the relationship between febrile seizures and respiratory virus activity

BackgroundFebrile seizures are the commonest type of seizure in occurring in the first few years of life, mostly affecting children aged six months to five years old. While largely benign, the incidence of each febrile seizure increases the risk of recurrence, afebrile seizures and epilepsy. Viruses are the most frequent cause of febrile illnesses in which a febrile seizure occurs. Febrile seizure presentation patterns appear to follow a seasonal trend.AimsTo identify patterns of febrile seizure incidence across different seasons with specific viral activity, and to establish a framework for analysing virus circulation data with common illnesses within a shared region and population.SettingOur study was a study of febrile seizure presentations in Victoria, Australia and respiratory virus detection.ParticipantsWe obtained independent datasets of emergency department febrile seizure presentations at Monash Health and all respiratory multiplex PCR tests performed at Monash Health from January 2010–December 2019 to observe common trends in virus circulation and febrile seizure incidence.Study designTrends were studied temporally through mixed effects Poisson regression analysis of the monthly incidence of febrile seizures and the rate of positive PCR tests. Peak viral seasons (95th centile incidence) were compared to median viral circulation (50th centile incidence) to calculate peak season risk ratios.ResultsWe found a 1.75–2.06 annual risk ratio of febrile seizure incidence in June–September. Temporal analysis of our data showed this peak in febrile seizures was attributable to circulating viruses in this season, and virus modelling showed correlation with increased rates of positive Influenza A (1.48 peak season risk ratio), Influenza B (1.31 peak season risk ratio), Human metapneumovirus (1.19 peak season risk ratio) and Respiratory Syncytial Virus (1.53 peak season risk ratio) on PCR testing.ConclusionOur ecological study statistically demonstrates the recognised winter peak in febrile seizure incidence and ascribes the seasonal relationship to several viral infections which affect the community, including a novel association with Human metapneumovirus.

Relationship between Febrile Seizures and Iron Deficiency Anemia in Children

BACKGROUND: The febrile seizure is the most common type of seizures occur in children under 5 years old and the peak age is 18 months, the temperature of body 38°C or more with no neurological infection or metabolic disorder. AIM: The aim of the present study is to found the association between iron deficiency anemia (IDA) and febrile seizure. METHODS: A case–control study has been carried out to determine the association between febrile convulsion and IDA. One hundred and twenty-two children with febrile seizure and 130 healthy babies include in study, period of study from May 2019 to December 2019 in Bunt Al Huda teaching hospital Nasiriyah, Dhi Qar, Iraq. The sociodemographic data are age of babies, weight, and gender. Diagnosis of febrile seizure done after details history and examination. Children aged 6 months–5 years presenting with febrile convulsion for cases and controls group of same age with fever but no convulsion. Both first and recurrent episodes of FC were included for cases. RESULTS: A case–control study of 122 children with seizures and 130 children without seizures, seizures babies have more weight than non-seizures, convulsion babies have low mean corpuscle volume than non-seizures, and seizures babies have low serum ferritin than non-seizures. There is a significant difference between mean serum ferritin of seizures and non-seizures babies, seizures babies have low serum ferritin than non-seizures. CONCLUSION: Serum ferritin also decreases more in babies with febrile seizure so IDA is occurring more in febrile seizure, and there is an association between iron supplements deficiency and febrile seizure.