Electroencephalographic Abnormalities Research Articles

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.

Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by next-generation sequencing (NGS) in 7 channel-encoding genes: KCNJ10, KCNQ3, KCNK6, CACNA1C, CACNA1G, SCN8A, and GRIN2B. Moreover, the data of 340 previously fully reported ID and/or DD cases with a mutation in any of these seven genes were combined with our patients to clarify the genotype and phenotype spectrum in this group. In total, the most common phenotypes in 354 cases with ID/DD in whom mutation in any of these 7 channel-encoding genes was identified were as follows: ID (77.4%), seizure (69.8%), DD (59.8%), behavioral abnormality (29.9%), hypotonia (21.7%), speech disorder (21.5%), gait disturbance (20.9%), and ataxia (20.3%). Electroencephalography abnormality (33.9%) was the major brain imaging abnormality. The results of this study broaden the molecular spectrum of channel pathogenic variants associated with different clinical presentations in individuals with ID and/or DD.

A DESCRIPTIVE STUDY OF EPILEPTIC PATIENTS IN HERAT CITY OF AFGHANISTAN

Epilepsy is one of the most common and serious neurological disorders which is characterized by recurrent unprovoked seizures. Its prevalence ranges from 0.5% to 1% of the population in developed countries, and even higher in developing countries. Around 70 million people worldwide have epilepsy.This research aims to perform a descriptive study on epileptic children 7-18 years old in Herat city of Afghanistan.This descriptive study was performed on 7-18 years old children with epilepsy, which was conducted from in 2021 in Herat city of Afghanistan. The study included 100 patients with epileptic disorders, in this study Encephalography, Magnetic resonance imaging, Computed tomography, and Sociodemographic information were used to describe the patients.The main group of this study included 100 epileptic children. The age of study participants ranged from 7- 18 years and the mean age was 9.21 ± 2.64 years. 46 (51.1%) were males and 44 (48.9%) were females. More often Epilepsy cases were observed in patients with focal seizures. Hereditary predisposition was found as a risk factor and it was statistically significant, the p-value was less than 0.0007. Having status epilepsy was also found a risk factor for epilepsy and the p-value was 0.001. Also, prognostic factors for refractory epilepsy were determined in this study.The risk factors that were found in epileptic patients, were high and comparable with other studies in the world literature. More often epilepsy cases were determined in patients with focal seizures, hereditary predisposition, and having status epilepsy also found as prevalent risk factors for refractory epilepsy. Also, prognostic factors for epilepsy were identified. Negative factors were a high number of seizures, abnormal electroencephalography findings, and early onset of seizures in epileptic patients.

TMEM173 rs7447927 genetic polymorphism and susceptibility to severe enterovirus 71 infection in Chinese children.

This study was designed to explore the association between the TMEM173 polymorphism (rs7447927) and the severity of enterovirus 71 (EV71) infection among Chinese children. The TMEM173 polymorphism was identified in EV71-infected patients (n = 497) and healthy controls (n = 535) using the improved multiplex ligation detection reaction (iMLDR). The interferon-α (IFN-α) serum levels were detected using enzyme linked immunosorbent assay (ELISA). The frequencies of the GG genotype and G allele of TMEM173 rs7447927 in the mild EV71 infection and severe EV71 infection groups were markedly higher than those in the control group. The GG genotype and G allele frequencies in severely infected EV71 patients were significantly higher than those in mildly infected EV71 patients. Severely infected EV71 patients with the GG genotype had higher white blood cell counts (WBC), and C-reactive proteins (CRP), and blood glucose (BG) levels, longer fever duration, higher vomiting frequency, spirit changes, and electroencephalography (EEG) abnormalities. IFN-α serum concentration in severely infected patients was significantly higher than in the mildly infected group. The IFN-α concentration in the GG genotype was significantly higher compared with those in the GC and CC genotypes in severe cases. The TMEM173 rs7447927 polymorphism was associated with EV71 infection susceptibility and severity. The G allele and GG genotype are susceptibility factors in the development of severe EV71 infection in Chinese children.

Possible convulsion and electroencephalographic abnormality in a patient taking long-term oral clarithromycin: A case report

Possible convulsion and electroencephalographic abnormality in a patient taking long-term oral clarithromycin: A case report

Genotype and phenotype spectrum of 10 children with STXBP1 gene-related encephalopathy and epilepsy.

STXBP1 mutations are associated with early onset epileptic encephalopathy (EOEE). Our aim was to explore the phenotype spectrum, clinical treatment and prognosis of STXBP1-related encephalopathy (STXBP1-E). Clinical and genetic data were collected from 10 patients with STXBP1 mutations. These patients were examined and diagnosed from 2015 to 2021 at the Pediatric Department of Qilu Hospital. Blood samples were collected and sequenced by next generation sequencing and Candidate pathogenic variants were identified using Sanger sequencing in all family members. All of the patients showed severe epilepsy, varying degrees of intellectual disability and delayed motor. The patients developed multiple seizure types and abnormal electroencephalography (EEG) results at onset, and focal seizures were the most frequent seizure type. Among the patients, 2 were diagnosed with Ohtahara syndrome, 2 patient was diagnosed with West syndrome. The other 6 patients could not be diagnosed with any specifically recognized epilepsy syndrome. Five of the 10 patients had a history of fever with seizures, 4 of whom had eliminated intracranial infection according to the results of cerebrospinal fluid (CSF) examinations, and the other patient was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) -associated encephalitis. We identified one patient with a complete deletion of STXBP1 and 9 patients with de novo heterozygous mutations of STXBP1. Among those mutations, 4 were novel (c.56°C > T, c.1315A > T, c.751G > C, and c.554_559del), and 5 had been previously reported [c.364C > T, c.569G > A (2 cases), c.748C > T, and c.1651C > T]. For 8 of our patients, different combinations of anti-seizure medications (ASMs) led to seizure freedom. One patient with MOG antibodies in his serum obtained a poor therapeutic effect from the traditional ASMs treatment, so he had to achieve seizure-free status through vagus nerve stimulation (VNS), which had little effect on his psychomotor ability. Fortunately, in one case, patient psychomotor ability was improved through VNS. Our study shows that STXBP1 screening should be considered in patients with neonatal seizures with intellectual disability, and frequent seizures with fever should also be considered with the STXBP1 mutation when intracranial infection is eliminated. VNS has expanded outcome measures to include behavioral and developmental function as well as seizure control.

Cnpy32xHA mice reveal neuronal expression of Cnpy3 in the brain

BackgroundIdentification of biallelic CNPY3 mutations in patients with epileptic encephalopathy and abnormal electroencephalography findings of Cnpy3 knock-out mice have indicated that the loss of CNPY3 function causes neurological disorders such as epilepsy. However, the basic property of CNPY3 in the brain remains unclear. New methodWe generated C-terminal 2xHA-tag knock-in Cnpy3 mice by i-GONAD in vivo genome editing system to investigate the expression and function of Cnpy3 in the mouse brain. Results2xHA-tagged Cnpy3 was confirmed by immunoblot analysis using anti-HA and CNPY3 antibodies, although HA tagging caused the decreased Cnpy3 protein level. Immunohistochemical analysis of Cnpy32xHA knock-in mice showed that Cnpy3-2xHA was predominantly expressed in the neuron. In addition, Cnpy3 and Cnpy3-2xHA were both localized in the endoplasmic reticulum and synaptosome and showed age-dependent expression changes in the brain. Comparison with existing methodsConventional Cnpy3 antibodies could not allow us to investigate the distribution of Cnpy3 expression in the brain, while HA-tagging revealed the expression of CNPY3 in neuronal cells. ConclusionsTaken together, we demonstrated that Cnpy32xHA knock-in mice would be useful to further elucidate the property of Cnpy3 in brain function and neurological disorders.

Detection of Electroencephalographic Abnormalities and Its Associated Factors among Children with Autism Spectrum Disorder in Thailand.

Epilepsy often causes more severe behavioral problems in children with autism spectrum disorder (ASD) and is strongly associated with poor cognitive functioning. Interestingly, individuals with ASD without a history of epilepsy can have abnormal electroencephalographic (EEG) activity. The aim of this study was to examine associations between EEG abnormalities and the ASD severity in children. The children with ASD who enrolled at the Rajanagarindra Institute of Child Development, Thailand were included in this study. The severity of ASD was measured by interviewing their parents with the Thai autism treatment evaluation checklist. The short sensory profile checklist was used for screening the abnormality of children in each domain. Ordinal logistic regression analysis was used to examine associations between factors potentially linked to EEG abnormalities. Most of the study participants were boys (87.5%) and the median age was 5 years. Among the 128 children, 69.5% showed EEG abnormalities (41.4% slow-wave and 28.1% epileptiform-discharge). The results show that a larger number of symptoms and increased severity of ASD were independently associated with a higher risk of EEG abnormalities. Our results emphasize the need for guidelines on the presence of EEG abnormalities in children with ASD for the early detection of epilepsy and improving treatment outcomes.

An Amplitude-Integrated EEG Evaluation of Neonatal Opioid Withdrawal Syndrome.

Infants with neonatal opioid withdrawal syndrome (NOWS) have disrupted neurobehavior that requires hospitalization and treatment. This article aimed to evaluate electroencephalography (EEG) abnormalities using amplitude-integrated EEG (aEEG) in NOWS. Eighteen term born infants with NOWS were recruited prospectively for an observational pilot study. aEEG monitoring was started within 24 hours of recruitment and twice weekly through discharge. aEEG data were analyzed for background and seizures. Severity of withdrawal was monitored using the modified Finnegan scoring (MFS) system. Fifteen neonates had complete datasets. Thirteen (87%) had continuous aEEG background in all recordings. None had sleep-wake cyclicity (SWC) at initial recording. Brief seizures were noted in 9 of 15 (60%) infants. Lack of SWC was associated with higher MFS scores. At discharge, 8 of 15 (53%) had absent or emerging SWC. aEEG abnormalities (absent SWC) are frequent and persist despite treatment at the time of discharge in the majority of patients with NOWS. Brief electrographic seizures are common. Neonates with persistent aEEG abnormalities at discharge warrant close follow-up. · EEG abnormalities are common and persist after clinical signs resolve in patients with NOWS.. · Short subclinical seizures may be seen.. · aEEG may identify neonates who need follow-up..

Utility of genetic testing in children with developmental and epileptic encephalopathy (DEE) at a tertiary hospital in South Africa: A prospective study

ObjectivesThe developmental and epileptic encephalopathies (DEE) are a heterogeneous group of rare neurodevelopmental disorders, characterised by early-onset seizures that are often intractable, electroencephalographic abnormalities, and developmental delay or regression. There is a paucity of data from sub-Saharan Africa on the genetic basis of DEE. The aim of this study was to investigate the genetic background of DEE using targeted next generation sequencing (NGS) analysis in a tertiary pediatric neurology outpatient department at Tygerberg Hospital, South Africa. In addition, we assessed the value of the genetic results to the parents and managing physicians. MethodsA prospective cohort study of 41 consecutive children with DEE (onset before 3 years of age) that were recruited over a 2-year period (2019-2021). Pre- and post-test genetic counselling were offered to all study participants. The results were categorized as either: positive (pathogenic/likely pathogenic variant identified), inconclusive (variant(s) of unknown significance identified), or negative (no variants identified). Result interpretation and careful matching of the variant to the clinical phenotype was performed. Subsequently, questionnaires were administered to both the physicians and the parents. ResultsA genetic underlying cause for DEE was identified in 18 of 41 children (diagnostic yield 43.9%). Variants in SCN1A (n=7), KANSL1 (n=2), KCNQ2 (n=2) and CDKL5 (n=2) were identified in more than one patient. Rarer genes included IQSEC2, SMC1A and STXBP1. All of the identified pathogenic variants fully explained and matched the respective phenotypic description of the patient at the time of clinical diagnosis. In 26% of patients the genetic result facilitated precision medicine management changes to anti-seizure medication. Both parents and physicians expressed benefit of genetic testing in patients with DEE. ConclusionTargeted NGS analysis proved an efficient diagnostic tool in detection of a genetic cause of DEE in a large proportion of South African children. The 43.9% diagnostic yield is similar to previously reported international pediatric cohorts. Additionally, the genetic findings proved useful for targeted therapeutic decision-making and accurate genetic counseling.

Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder

Epilepsy and Electroencephalographic Abnormalities in Children with Autistic Spectrum Disorder

Expression of miR-155 in Serum Exosomes in Children with Epilepsy and Its Diagnostic Value

Objective This study was designed to analyze the expression of miR-155 in serum exosomes in children with epilepsy and to explore its diagnostic value. Methods From March 2020 to March 2021, 43 hospitalized children with epilepsy admitted to the Department of Neurology of the hospital were included, and another 43 gender- and age-matched healthy children were randomly selected as the healthy control group during the same period. Then fasting serum samples of the two groups were collected to extract the exosomes. The morphology of the exosomes was evaluated under a transmission electron microscope, and the expression of specific protein markers on the surface was detected by Western Blot. In addition, the relative expression of miR-155 in serum exosomes in children with epilepsy with different courses of the disease and different degrees of abnormal electroencephalography (EEG) was compared, and the area under the receiver operating characteristic (ROC) curve (ROC-AUC) was used to evaluate the diagnostic value of miR-155. Results A higher relative expression level of miR-155 in serum exosomes was obtained in the epilepsy group, as compared to the healthy control group (P<0.05), and the relative expression of miR-155 in serum exosomes in children with epilepsy was correlated with the course of the disease and the degree of abnormal EEG (both P<0.05). In addition, the expression of miR-155 in serum exosomes showed high diagnostic efficiency for epilepsy (AUC = 0.813, P<0.05). Conclusion The expression of miR-155 in serum exosomes in children with epilepsy is up-regulated, and its level is related to the course of the disease and the degree of abnormal EEG, so miR-155 in serum exosomes may be used as a biomarker for the diagnosis and assessment of the severity of epilepsy.

Seizure Semiology, Location of Lesion on Neuroimaging, and Interictal Electroencephalographic (EEG) Abnormalities in Children With Single-Lesion Neurocysticercosis-Is There a Correlation?

Single-lesion neurocysticercosis provides a model of seizure genesis secondary to an acquired lesion. We aimed to study the correlation of seizure semiology with the location of the lesion and interictal electroencephalographic (EEG) abnormalities in children with single-lesion neurocysticercosis. Methods: Prospective, observational study in children with single-lesion neurocysticercosis and seizures. Seizure classification was done after an interview with the parent/onlooker and the child. Localization and lateralization of the lesion were done by neuroimaging. The EEG abnormalities were classified based on their morphology and location. Results: Ninety-two children (7.9 ± 2.4 years) were included. Focal-onset seizures were the commonest (n = 54; 58.6%) seizures. Majority of the lesions were located in the frontal (n = 43; 47%) and parietal cortex (n = 34; 37%). EEG showed focal slowing (n = 15; 53.6%) and epileptiform spikes/spike-wave complexes (n = 13; 46.4%). There was a perfect agreement of clinical semiology with imaging lateralization (K = 1.0) and moderate agreement with imaging localization (K = 0.4). There was no significant agreement of clinical localization with EEG slowing (K = 0.1) or sharps (K = 0). There was moderate agreement (K = 0.6) of EEG slowing and substantial agreement (K = 0.7) of EEG sharps with clinical lateralization. Focal EEG slowing had moderate (K = 0.5) agreement with imaging lateralization. Focal sharps/spikes had substantial (K = 0.7) agreement with imaging lateralization. The positive predictive value (PPV) of seizure semiology for lateralization and localization was 100% and 68%, respectively. PVV of focal sharps for lateralization and localization was 84% and 70%, respectively. PPV of focal slowing for lateralization and localization was 77% and 65%, respectively. Conclusion: Seizure semiology in single-lesion neurocysticercosis correlates very well with lateralization but not so well with localization of lesion on neuroimaging. Focal EEG abnormalities are seen in nearly one-third of children with single-lesion neurocysticercosis. EEG often predicts the side of the lesion but has poor localizing value.

Continuous Video Electroencephalography (EEG) for Event Characterization in Critically Ill Children.

To determine features of paroxysmal events and background electroencephalographic (EEG) abnormalities associated with electroclinical seizures in critically ill children who undergo continuous video EEG to characterize clinical events. This is a prospective study of critically ill children from July 2016 to October 2018. Non-neonates with continuous video EEG indication to characterize a clinical event were included. Patients with continuous video EEG to assess for subclinical seizures due to unexplained encephalopathy and those whose event of concern were not captured on continuous video EEG were excluded. The event to be characterized was taken from documented descriptions of health care providers and classified as motor, ocular, orobuccal, autonomic, and other. In patients with more than 1 component to their paroxysmal event, the events were classified as motor plus and nonmotor plus. One hundred patients met inclusion and exclusion criteria, with electroclinical seizures captured in 30% (30/100). The most common event to be characterized was an autonomic event in 32% (32/100). Asymmetry and epileptiform discharges were associated with electroclinical seizures (odds ratio [OR] 2.7, 95% confidence interval [CI] 1.1-6.5, P = .03; and OR 12.5, 95% CI 4.4-35.6, P < .0001). Autonomic events alone, particularly unexplained vital sign changes, were not associated with electroclinical seizures (OR 0.3, 95% CI 0.11-0.93, P = .03). Isolated autonomic events are unlikely to be electroclinical seizures. Details of the paroxysmal events in question can help decide which patient will benefit most from continuous video EEG based on institutional resources.

Childhood epilepsy: a study of etiological and prognostic factors for failure of remission at a tertiary care government hospital, a prospective COHORT study

Background: This study was carried out to identify early predictive factors of medically intractable childhood epilepsy. We also aimed to explore the prognosis in terms of remission with anti-epileptic drug (AED) treatment and to identify the predictors of poor prognosis (failure of remission) in relation to the control of epilepsy.Methods: Children with epilepsy were included. Information recorded at the time of the first visit: age, gender, age at onset of epilepsy, patient history, AED treatment and Seizure control. Details of general and neurological examination were also recorded. These patients were then followed up over a one-year period to assess for remission and patient compliance with medication.Results: A total of 239 patients between the ages of 1 month and 12 years were diagnosed with epilepsy according to the International league against epilepsy (ILAE) classification. Of these 213 patients followed up. Among these, 126 (59.1%) patients attained remission while 87 (40.8%) patients failed to attain remission. Age of onset less than 1 year, microcephaly, developmental delay at diagnosis, a definite etiology, infantile spasms, structural abnormality detected on neuroimaging, abnormal electro-encephalography (EEG) and the requirement for polytherapy to achieve seizure control were found to be associated with a poor prognosis (failure of remission).Conclusions: The poor prognostic factors for childhood epilepsy at diagnosis are age of onset &lt;1 year, microcephaly, infantile spasms, structural abnormality on neuroimaging and abnormal EEG. At follow up patients requiring an add-on AED to pre-existing treatment regimen is associated with a lesser likelihood of achieving remission.

Relevance of sleep and associated structural changes in GBA1 mouse to human rapid eye movement behavior disorder

Rapid eye movement (REM) sleep behaviour disorder (RBD) is a REM parasomnia that often predicts the later occurrence of alpha-synucleinopathies. Variants in the gene encoding for the lysosomal enzyme glucocerebrosidase, GBA, strongly increase the risk of RBD. In a GBA1-mouse model recently shown to mimic prodromal stages of α-synucleinopathy, we now demonstrate striking REM and NREM electroencephalographic sleep abnormalities accompanied by distinct structural changes in the more widespread sleep neurocircuitry.

Acute physiologic prediction of pediatric post-traumatic epilepsy

ObjectivePost-traumatic epilepsy (PTE) is a known complication of traumatic brain injury (TBI). Limited physiologic biomarkers have been investigated in relation to pediatric PTE. Our aim is to identify clinical, physiologic and neuroimaging biomarkers predictive of pediatric PTE arising during the acute care phase after injury. MethodsWe performed a retrospective analysis from a prospectively collected clinical database of pediatric patients who underwent multimodality neurologic monitoring that included continuous electroencephalography and intracranial pressure (ICP) monitoring. Biomarkers included hemodynamic vital signs, model-based indices of cerebrovascular pressure reactivity (CVPR) and autonomic function (AF), electroencephalographic abnormalities, and neuroimaging abnormalities on the initial CT scan on day of imaging. Our primary outcome, PTE, was classified as the presence of unprovoked seizures 2 months post-injury or the continued need for antiseizure medications at 12-month post-injury. We utilized univariate logistic regression to identify biomarkers associated with PTE. Results61 surviving patients were included in this study, among which 10 (16.4%) developed PTE. We identified that PTE was associated with increased ICP (odds ratio [OR] 1.25, 95% confidence interval [CI] 1.02–1.52), increased pressure reactivity indices (92.53, 2.84->999.99), increased wavelet pressure reactivity indices (121.76, 2.84->999.99), increased CT Marshall scores (1.76, 1.13–2.74), decreased HRsd (0.54, 0.33–0.87) and the presence of epileptiform discharges (8.06, 1.85–35.17), and abnormal sleep spindles (4.88, 1.18–20.00). Whereas early post-traumatic seizures within the first 7 days post-injury were associated with PTE development (7.58, 1.81–39.68), this association was significant for such seizures occurring between 24 and 168 h post-injury (21.47, 4.18–110.38), and not for seizures occurring within 24 h post-injury. Among patients experiencing early post-traumatic seizures, increased time with seizures on surface electroencephalography was associated with PTE development (7.28, 2.05–73.14). We also identified that development of PTE was associated with worsened functional outcomes identified by increased Glasgow Outcome Scale – Extended Pediatric (GOSE-PEDs) scores (3.18, 1.68–8.01). ConclusionPediatric PTE development is associated with increased ICP, impaired CVPR, low heart rate variability, worsened neuroimaging findings, and electroencephalographic abnormalities identified during intensive care. Further studies are needed to investigate strategies to mitigate pediatric PTE development.

A Child with Developmental Regression and Electroencephalographic Abnormalities.

A 5-year-and-9-month-old boy was referred for investigation of underlying neurometabolic disease. Developmental milestones were normal until 2 years of age when his social and language skills started to regress following a mild infection. He became withdrawn, and stopped speaking and making eye contact. Family history revealed consanguineous parents and a healthy brother. Physical examination was normal except for speech delay, poor social interaction, and poor eye contact, but did not meet the criteria of autism spectrum disorder due to lack of restrictive, repetitive patterns. He did not have clinically evident seizures, but the electroencephalogram showed bilateral frontal and temporal paroxysmal activity that did not resolve with antiepileptic treatment. Brain magnetic resonance imaging was normal. The metabolic workup revealed normal plasma acylcarnitines, moderately increased blood lactate (4.3 mmol/L; reference interval: <2.1), striking increases of proline in plasma (2926 µmol/L; reference interval: 40 to 332) and urine (99 160 nmol/mg creatinine; reference interval: 0 to 250), and urinary 2-ketoglutarate (29 640 mmol/mol creatinine; reference interval: <80) and excretion of pyrrole-2-carboxylglycine (4160 mmol/mol creatinine; not detectable in healthy individuals).

Comparative Efficacy and Safety of Lacosamide and Oxcarbazepine for Seizure Control in Children with Newly Diagnosed Solitary Neurocysticercosis.

In newly diagnosed neurocysticercosis (NCC) with seizures, the choice of anti-seizure medication (ASM) seems to be arbitrary due to a lack of comparative studies. Although oxcarbazepine (OXC) is often considered efficacious for focal seizures in NCC, due to adverse effects, newer ASMs like levetiracetam (LCM) and lacosamide are also being explored. This study was performed by case record review of children with newly diagnosed solitary viable parenchymal NCC aged 4-18years who received lacosamide and OXC at least for 12 weeks between August 2019 and April 2021, from a prospective registry of a tertiary care teaching hospital in north India. Seizure control, electroencephalographic abnormalities, resolution of inflammatory granulomas and adverse effects were compared between two arms at 12 and 24 weeks. Total 31 (8.3 ± 4.7 years, 19 boys) and 72 (8.6 ± 4.2 years, 43 boys) completed at least 12 weeks follow-up in LCM and OXC groups, out of which 2 and 51 completed at least 24 weeks follow-up in LCM and OXC groups, respectively. The occurrence of breakthrough seizure was comparable in both arms at 12 and 24 weeks (1/31 and 2/22 in lacosamide group vs. 2/72 and 4/51 in OXC group, p = 0.66 and 0.59, respectively). Patients receiving OXC had more frequent treatment-emergent adverse events (p = 0.0001) and four patients required discontinuation due to severe adverse events (SAEs), while none in the lacosamide group had SAEs. Lacosamide appears to be efficacious and safe for achieving seizure freedom in patients with solitary viable parenchymal neurocysticercosis.

Longitudinal analysis of electroencephalography pattern changes in an infant with Schaaf‐Yang syndrome and a novel mutation in melanoma antigen L2 (MAGEL2)

BackgroundSchaaf‐Yang syndrome (SYS) is a rare hereditary disease caused by truncating point mutations of the paternal allele of melanoma antigen L2 (MAGEL2), one of five protein‐coding genes within the Prader‐Willi syndrome (PWS) critical domain. SYS shares many clinical and molecular characteristics with PWS but has some distinct features, such as joint contractures and autism. Patients with PWS show abnormal electroencephalography (EEG) patterns. However, there are very few reports on EEG findings in patients with SYS.MethodsA SYS patient was included in this study. Detailed neurological examinations and EEG were performed from neonate to infant ages. Sanger sequencing was performed.ResultsOur patient presented abnormal EEG findings and had diffuse brain dysfunction symptoms including a reduced level of consciousness, diminished spontaneous movements, hypotonia, feeding difficulties, and hypoventilation from early after birth. As she grew older and her background activity of EEG normalized, her neurodevelopmental symptoms remained but improved. Sanger sequencing of this patient revealed a novel, heterozygous c.2005C > T, truncating mutation in the MEGAL2 gene.ConclusionsWe described an SYS‐associated, time‐dependent, EEG pattern in a patient with SYS. Our findings of longitudinal EEG changes in a patient with SYS revealed a specific pattern of how affected individuals develop brain function.

Successful medical treatment of west syndrome with a KCNA2 variant: a case report

BackgroundWest syndrome is a devastating disorder characterized by a triad of epileptic spasms, abnormal electroencephalography (EEG), and developmental arrest or psychomotor delay. In addition to early diagnosis, knowing the etiology of the condition is also important for its treatment. Among various etiologies, the genetic factors, especially mutations of ion channel genes, are very common and strongly linked to West syndrome.Case presentationA boy who had epileptic spasms from the age of 4 months was diagnosed with West syndrome based on the clinical manifestation and EEG results in Shenzhen Children’s Hospital in June 2019. Trios whole-exome sequencing (WES) test and protein structural model prediction were performed. We also reviewed the clinical and genetic features of this syndrome and the mechanisms of action of topiramate (TPM) by literature search in databases of Online Mendelian Inheritance in Man, Clinical Genome Resource, PubMed, Chinese National Knowledge Infrastructure and Wanfang database using keywords “KCNA2” “West syndrome” and “Topiramate” by December 2020. The relationship between the effect of TPM and the pathogenesis of the KCNA2 variant was also assessed. The WES test revealed c.244C > T/p. Arg82Cys varaint of KCNA2 (NM_004974.3) in this patient, and Sanger sequencing identified this was a de novo mutation. As far as we know, this is the first report of the c.244C > T/p. Arg82Cys variant in KCNA2, which was likely a pathogenic mutation. The seizures were successfully controlled for 10 months by TPM after failure of sodium valproate, large doses of vitamin B6, and adrenocorticotropic hormone. We speculate that the therapeutic effect of TPM in this patient is partially due to the inhibition of carbonic anhydrase.ConclusionsMutations in the KCNA2 gene should be considered for patients with West syndrome. The TPM treatment is probably effective for KCNA2-associated disorders.