Anatomy of the medial wall of the cavernous sinus: A systematic review of the literature.

The existence, composition, and continuity of the medial wall of the cavernous sinus (MWCS) have been extensively studied and debated. However, the precise nature of this membrane remains unknown. Understanding the anatomical characteristics of the MWCS is crucial, notably in relation to pituitary adenomas, which often invade the cavernous sinus. Indeed, surgical treatment of those tumors is frequently incomplete because of such invasion. The anatomical and molecular basis of the peculiar and often lateralized tropism of adenomatous cells to the cavernous sinus is not yet understood and it has been suggested repeatedly that the MWCS is physiologically frail. During the past three decades, there have been several conflicting accounts of the existence, composition, and continuity of this medial wall, but methodological differences and varying definitions could have contributed to the current lack of consensus regarding it. The aim of this systematic review was to summarize previously published data concerning the existence, anatomy, composition, and continuity of the MWCS.

A standardized protocol for assessing the performance of automatic detection systems used in onshore wind power plants to reduce avian mortality.

While wind power plants are an important contribution to the production of renewable energy to limit climate change, collision mortality from turbines is a danger for birds, including many protected species. To try to mitigate collision risks, automatic detection systems (ADSs) can be deployed on wind power plants; these work by detecting incoming birds using a detection/classification process and triggering a specific reaction (scaring off the bird or shutting down the turbine). Nonetheless, bird fatalities still occur at ADS-equipped wind power plants, which raises the question of the performance of these tools. To date, the lack of a transparent, peer-reviewed experimental process to compare the performance of types of ADS has meant there is no robust protocol to assess these systems. With the aim of filling this gap, we developed two standardized protocols that provide objective and unbiased assessments of the performance of different types of ADS, based on their probability of detecting/classifying birds at risk of collision. Both protocols rely on precise 3D tracking of wild birds by human observers using a laser rangefinder, and the comparison of these tracks with those detected and recorded by an ADS. The first protocol evaluates a system's general performance, generating comparable data for all types of ADS. In this protocol, detection/classification probability is estimated conditional on several abiotic and biotic environmental factors such as bird size, distance from the target, the flight angle and azimuth of the bird, as well as weather conditions. The second protocol aims to verify that the performance of an ADS installed on a given wind power plant complies with its regulatory requirements. In this protocol, detection/classification probability is specifically estimated for a given target species at a given regulatory detection distance. This protocol also estimates the proportion of time an ADS is functional on site over a year, and the proportion of reaction orders successfully operated by wind turbines. These protocols have been field-tested and made publicly available for use by government agencies and wind power plant operators.

Hippocampal and neocortical BRAF mutant non-expansive lesions in focal epilepsies.

OBJECTIVE: Mesial Temporal Lobe Epilepsy-associated Hippocampal Sclerosis (MTLE-HS) is a syndrome associated with various aetiologies. We previously identified CD34-positive extravascular stellate cells (CD34+ cells) possibly related to BRAFV600E oncogenic variant in a subset of MTLE-HS. We aimed to identify the BRAFV600E oncogenic variants and characterise the CD34+ cells. METHODS: We analysed BRAFV600E oncogenic variant by digital droplet Polymerase Chain Reaction in 53 MTLE-HS samples (25 with CD34+ cells) and nine non-expansive neocortical lesions resected during epilepsy surgery (five with CD34+ cells). Ex vivo multi-electrode array recording, immunolabelling, methylation microarray and single nuclei RNAseq were performed on BRAFwildtype MTLE-HS and BRAFV600E mutant non-expansive lesion of hippocampus and/or neocortex. RESULTS: We identified a BRAFV600E oncogenic variant in five MTLE-HS samples with CD34+ cells (19%) and in five neocortical samples with CD34+ cells (100%). Single nuclei RNAseq of resected samples revealed two unique clusters of abnormal cells (including CD34+ cells) associated with senescence and oligodendrocyte development in both hippocampal and neocortical BRAFV600E mutant samples. The co-expression of the oncogene-induced senescence marker p16INK4A and the outer subventricular zone radial glia progenitor marker HOPX in CD34+ cells was confirmed by multiplex immunostaining. Pseudotime analysis showed that abnormal cells share a common lineage from progenitors to myelinating oligodendrocytes. Epilepsy surgery led to seizure freedom in eight of the 10 patients with BRAF mutant lesions. INTERPRETATION: BRAFV600E underlies a subset of MTLE-HS and epileptogenic non-expansive neocortical focal lesions. Detection of the oncogenic variant may help diagnosis and open perspectives for targeted therapies.

Cognitive effect of antiseizure medications in medial temporal lobe epilepsy.

BACKGROUND AND PURPOSE: The specific effects of antiseizure medications (ASMs) on cognition are a rich field of study, with many ongoing questions. The aim of this study was to evaluate these effects in a homogeneous group of patients with epilepsy to guide clinicians to choose the most appropriate medications. METHODS: We retrospectively identified 287 refractory patients with medial temporal lobe epilepsy associated with hippocampal sclerosis. Scores measuring general cognition (global, verbal and performance IQ), working memory, episodic memory, executive functions, and language abilities were correlated with ASM type, number, dosage and generation (old vs. new). We also assessed non-modifiable factors affecting cognition, such as demographics and epilepsy-related factors. RESULTS: Key parameters were total number of ASMs and specific medications, especially topiramate (TPM) and sodium valproate (VPA). Four cognitive profiles of the ASMs were identified: (i) drugs with an overall detrimental effect on cognition (TPM, VPA); (ii) drugs with negative effects on specific areas: verbal memory and language skills (carbamazepine), and language functions (zonisamide); (iii) drugs affecting a single function in a specific and limited area: visual denomination (oxcarbazepine, lacosamide); and (iv) drugs without documented cognitive side effects. Non-modifiable factors such as age at testing, age at seizure onset, and history of febrile seizures also influenced cognition and were notably influenced by total number of ASMs. CONCLUSION: We conclude that ASMs significantly impact cognition. Key parameters were total number of ASMs and specific medications, especially TPM and VPA. These results should lead to a reduction in the number of drugs received and the avoidance of medications with unfavorable cognitive profiles.

Stratifying sudden death risk in adults with drug-resistant focal epilepsy: The SUDEP-CARE score.

BACKGROUND AND PURPOSE: A clinical risk score for sudden unexpected death in epilepsy (SUDEP) in patients with drug-resistant focal epilepsy could help improve prevention. METHODS: A case-control study was conducted including (i) definite or probable SUDEP cases collected by the French National Sentinel Mortality Epilepsy Network and (ii) control patients from the French national research database of epilepsy monitoring units. Patients with drug-resistant focal epilepsy were eligible. Multiple logistic regressions were performed. After sensitivity analysis and internal validation, a simplified risk score was developed from the selected variables. RESULTS: Sixty-two SUDEP cases and 620 controls were included. Of 21 potential predictors explored, seven were ultimately selected, including generalized seizure frequency (>1/month vs. <1/year: adjusted odds ratio [AOR] 2.6, 95% confidence interval [CI] 1.25-5.41), nocturnal or sleep-related seizures (AOR 4.49, 95% CI 2.68-7.53), current or past depression (AOR 2.0, 95% CI 1.19-3.34) or the ability to alert someone of an oncoming seizure (AOR 0.57, 95% CI 0.33-0.98). After internal validation, a clinically usable score ranging from -1 to 8 was developed, with high discrimination capabilities (area under the receiver operating curve 0.85, 95% CI 0.80-0.90). The threshold of 3 has good sensitivity (82.3%, 95% CI 72.7-91.8), whilst keeping a good specificity (82.7%, 95% CI 79.8-85.7). CONCLUSIONS: These results outline the importance of generalized and nocturnal seizures on the occurrence of SUDEP, and show a protective role in the ability to alert someone of an oncoming seizure. The SUDEP-CARE score is promising and will need external validation. Further work, including paraclinical explorations, could improve this risk score.

How does maternal age influence reproductive performance and offspring phenotype in the snow petrel (Pagodroma nivea)?

In wild vertebrates, the increase of breeding success with advancing age has been extensively studied through laying date, clutch size, hatching success, and fledging success. However, to better evaluate the influence of age on reproductive performance in species with high reproductive success, assessing not only reproductive success but also other proxies of reproductive performance appear crucial. For example, the quality of developmental conditions and offspring phenotype can provide robust and complementary information on reproductive performance. In long-lived vertebrate species, several proxies of developmental conditions can be used to estimate the quality of the produced offspring (i.e., body size, body condition, corticosterone levels, and telomere length), and therefore, their probability to survive. By sampling chicks reared by known-aged mothers, we investigated the influence of maternal age on reproductive performance and offspring quality in a long-lived bird species, the snow petrel (Pagodroma nivea). Older females bred and left their chick alone earlier. Moreover, older females had larger chicks that grew faster, and ultimately, those chicks had a higher survival probability at the nest. In addition, older mothers produced chicks with a higher sensitivity to stress, as shown by moderately higher stress-induced corticosterone levels. Overall, our study demonstrated that maternal age is correlated to reproductive performance (hatching date, duration of the guarding period and survival) and offspring quality (body size, growth rate and sensitivity to stress), suggesting that older individuals provide better parental cares to their offspring. These results also demonstrate that maternal age can affect the offspring phenotype with potential long-term consequences.

Postictal psychosis, a cause of secondary affective psychosis: A clinical description study of 77 patients.

OBJECTIVE: Postictal psychosis (PIP) is a severe complication occurring at least in 2% of patients with epilepsy. Since the 19th century, psychiatrists have reported the specificity of PIP presentation, but descriptions did not clearly distinguish PIP from after-seizure delirium. This study aimed to provide a precise description of psychiatric signs occurring during PIP, and improve recognition of PIP. METHODS: We performed a review of clinical descriptions available in literature (48 patients), that we gathered with a retrospective multicentric case series of patients from three French epilepsy units (29 patients). For each patient, we collected retrospectively the psychiatric signs, and epilepsy features. RESULTS: We found a high prevalence of persecutory (67.5%) and religious (55.8%) delusions, with almost systematic hallucinations (83.1%) and frequent mood disturbances (76.6%), especially euphoria. Severe consequences were not negligible (other-directed assault in 20.8%, self-directed in 13.0%). The type of delusion was associated with mood symptoms (p = 0.017). Episode onset was mainly sudden/rapid (90.9%), its duration was mostly between one and 14 days (64.9%) and the response to antipsychotic medication was good. Disorder was recurrent in more than a half of the sample (57.1% of patients with at least 2 episodes). CONCLUSION: Considering our findings, PIP resembles more an affective psychosis, than a purely psychotic disorder. The presence of affective signs differentiates PIP from other psychotic comorbidities in epilepsy. Additionally, resemblance between PIP and psychotic manic episode might help to discuss links between epilepsy and bipolar disorder.

Adaptive behavior and psychiatric comorbidities in KCNB1 encephalopathy.

AIM: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the adaptive and behavioral features in a series of patients with KCNB1 pathogenic variants. METHODS: We included 25 patients with a KCNB1 encephalopathy, aged from 3.2 to 34.1 years (median = 10 years). Adaptive functioning was assessed in all patients using the French version of the Vineland Adaptive Behavior Scales, Second Edition (VABS-II) questionnaire. We screened global behavior with the Childhood Behavioral Check-List (CBCL, Achenbach) and autism spectrum disorder (ASD) with the Social Communication Questionnaire (SCQ). We used a cluster analysis to identify subgroups of adaptive profiles. RESULTS: VABS-II questionnaire showed pathological adaptive behavior in all participants with a severity of adaptive deficiency ranging from mild in 8/20 to severe in 7/20. Eight out of 16 were at risk of Attention Problems at the CBCL and 13/18 were at risk of autism spectrum disorder (ASD). The adaptive behavior composite score significantly decreased with age (Spearman's Rho=-0.72, p<0.001) but not the equivalent ages, suggesting stagnation and slowing but no regression over time. The clustering analysis identified two subgroups of patients, one showing more severe adaptive behavior. The severity of the epilepsy phenotype predicted the severity of the behavioral profile with a sensitivity of 70% and a specificity of 90.9%. CONCLUSION: This study confirms the deleterious consequences of early-onset epilepsy in addition to the impact of the gene dysfunction in patients with KCNB1 encephalopathy. ASD and attention disorders are frequent. Parental questionnaires should be considered as useful tools for early screening and care adaptation.

Evaluation of a shortened version of the Action Research Arm Test (ARAT) for upper extremity function after stroke: The Mini-ARAT.

OBJECTIVES: (i) to create a shortened version of the Action Research Arm Test scale, (ii) to investigate its psychometric properties compared to the original scale and (iii) to externally validate it within an independent cohort. DESIGN: Prospective longitudinal cohort study. SETTINGS: Two University Hospitals (France, Switzerland). PARTICIPANTS: 47 patients with poststroke motor deficits of the upper limb coming from two different sites were included and divided into two cohorts (n = 22 for the construction cohort; n = 25 for the validation cohort). MAIN MEASURES: We used the first cohort to build the Mini-ARAT by shortening the Action Research Arm Test scale on the basis of ceiling/floor effects and collinearity of the subscales. We studied its reliability, validity, and responsiveness and performed an external validation with the second cohort. RESULTS: The Mini-ARAT consisted of 2 subscales from the original Action Research Arm Test scale (Grip and Pinch). Internal consistency (α = 87) and inter-rater reliability (0.99, 95% CI: 0.98-0.99, p < 0.01) were good and similar to those of the Action Research Arm Test scale. The Minimal Clinically Important Difference of the Mini-ARAT was 9 points. The predictive validity in the construction and validation cohorts showed good correlation between the Mini-ARAT at baseline and the Fugl Meyer at 3 months (rho, 95% CI: 0.77, 0.49-0.90, p < 0.01, and 0.58, 0.19-0.96, p < 0.01). CONCLUSION: The Mini-ARAT is a time-effective tool able to capture the dynamics of motor deficits with high reliability and consistency, providing excellent information about residual motor functions, which is critically important for clinical and research purposes.

Anterior interhemispheric approach for anterior fossa dural arteriovenous fistulas.

Anterior fossa dural arteriovenous fistulas (AF-DAVF) usually display a cortical venous drainage and are therefore at risk for rupture. Microsurgery is traditionally considered in many centers as the first-line treatment since endovascular treatment (EVT) entails a lower cure rate and significant ophthalmic risks. The anterior interhemispheric approach (AIA), originally described by Mayfrank in 1996, seems to offer the effectiveness of microsurgery while limiting the risks related to subfrontal craniotomy. The objective of this study was to analyze the surgical outcomes of patients who underwent this surgical approach for the treatment of AF-DAVF. We hereby describe our 10 years' experience of patients treated for an AF-DAVF with this technique in our institution and retrospectively analyzed our results. In addition, we describe our operative technique and its specificities. Eleven patients with AF-DAVF were included in our study. The definitive cure of the fistula was confirmed in all cases with postoperative cerebral angiography. All patients had a good neurological outcome and no major complication occurred. Brain retractors were never used during surgery, the frontal sinus was never opened neither, and anosmia was never observed after surgery. Anterior interhemispheric approach seems to be safe and effective to treat AF-DAVF with lower risks than other surgical approaches. This technique could be more widely considered when facing such midline vascular lesion.

"Home alone!" influence of nest parental attendance on offspring behavioral and hormonal stress responses in an Antarctic seabird, the snow petrel (Pagodroma nivea).

In altricial species, parents brood their chicks constantly before leaving them unattended sometimes for extended periods when they become thermally independent. During this second phase, there is sometimes important inter-individual differences in parental attendance and the fitness costs and benefits of parental strategies have previously been extensively investigated. However, the impact of parental presence on offspring behaviors and stress physiology has been overlooked. Here, we examined the influence of parental presence on offspring hormonal and behavioral stress sensitivities in snow petrel chicks. We demonstrated for the first time in a wild bird species that attended chicks had lower stress-induced corticosterone levels and a lower probability to show defensive behavior compared to the alone chicks. This reduced stress sensitivity is certainly explained by the well-known link between corticosterone and nutritional status, and by the recent delivery of meals to the attended chicks and the improvement of their nutritional status. It may also be explained by the parental protection against predators or inclement weather, or/and by the psychosocial comfort of parental presence for the offspring. Overall, these results suggest that the presence of a parent in the nest reduces offspring stress sensitivity in wild birds. Further studies would now be required to disentangle the impact of nutritional status and parental presence on stress sensitivity and to better understand the potential impact of parental presence and circulating corticosterone levels on growth and cognitive development in wild birds.

Sleep scoring based on video-electroencephalography monitoring in an Epileptology Unit: Comparison with polysomnography.

The aim of the study was to compare the performance of video- electroencephalography (EEG) monitoring and standard polysomnography for sleep scoring in an Epileptology Unit. We calculated the level of agreement between two methods of sleep scoring, using either 27-electrode video-EEG or polysomnography for 1 night in 22 patients admitted to our Epileptology Unit. Independent experts manually scored sleep using the American Academy of Sleep Medicine 2017 guidelines. We evaluated the number of sleep cycles and their distribution on hypnogram, total sleep time, sleep efficiency, sleep and rapid eye movement sleep-onset latency, wake after sleep-onset, and sleep stages. We then extracted sub-samples of recordings to examine the agreement in microarousal and rapid eye movement scoring. We used Bland and Altman plots and Cohen's kappa test to measure agreement. Bland and Altman plots showed at least 95% agreement for all studied sleep parameters with the exception of wake after sleep onset, where there was an 11 min difference. Cohen's kappa test showed an agreement for the recognition of microarousal (0.89) and of rapid eye movements (0.96) in sub-samples. Video-EEG represents an acceptable alternative tool for sleep architecture study in patients admitted to an Epileptology Unit.

Psychogenic non-epileptic seizure-status in patients admitted to the intensive care unit.

BACKGROUND: Psychogenic non-epileptic seizure-status (PNES-status), defined by psychogenic non-epileptic seizures (PNES) over 30 min, are often misdiagnosed as status epilepticus. We aimed to describe the features of patients who experienced PNES-status, admitted to an intensive care unit (ICU). METHODS: We screened the patients hospitalized in our epilepsy unit during a 4-year period, with a diagnosis of PNES-status and ICU admission. RESULTS: Among 171 patients with PNES, we identified 25 patients (15%) who presented 39 episodes of PNES-status leading to ICU admission. Some 76% of the patients were women. The median age at the time of the PNES-status episode was 35 years. Half (48%) alleged a history of epilepsy, but epilepsy was confirmed in only 12%. A history of psychiatric disease was found in 68%. PNES were present in 85% of patients before PNES-status, and semiology of PNES and PNES-status was similar for 79% of the patients, including hyperkinetic movements in 95% of the episodes and suspected loss of consciousness in 87%. Benzodiazepines were administrated in 77% of the episodes, antiepileptic drugs in 87%, and antibiotherapy for a ICU-related infection in 15% of the episodes. Oral intubation was performed in 41% of the episodes. Blood tests showed normal levels of creatine phosphokinase and leucocytes in 90% and 95% of the episodes, respectively. No epileptic activity was found during per-event electroencephalography but interictal epileptic activity was found in 10% of the episodes. CONCLUSION: Hyperkinetic PNES-status should always be considered as a differential diagnosis of status epilepticus, with a high risk of iatrogenic consequences.

Distinctive neuropsychological profiles of lateral temporal lobe epilepsy.

OBJECTIVE: Lateral temporal lobe epilepsies (LTLE) are poorly characterized heterogeneous epilepsies. As the lateral temporal lobe supports distinct functions, we hypothesized that neuropsychological profiles could differ according to the localization of the seizure focus within the lateral temporal lobe. METHODS: We retrospectively examined the neuropsychological characteristics of 74 consecutive patients with refractory LTLE assessed in the context of a presurgical investigation at the Pitié-Salpêtrière Hospital in Paris between 1998 and 2018. Precise localization of the epileptic focus was correlated with scores on tests of intelligence (Global, Verbal and Performance IQ), working memory, episodic memory (verbal and visual learning and forgetting), executive functions, and language abilities. RESULTS: We demonstrated an impact of the localization of the epileptic focus within the lateral temporal lobe with worse learning and/or executive performances depicted in the infero-basal and pure pole LTLE groups and greater language difficulties in the posterior LTLE group, Antiepileptic drugs had a greater effect than parameters related to the epilepsy itself as the lesion or the disease duration, and finally as in medial TLE, the age, education, and sex influenced some cognitive performances. CONCLUSION: Our findings show that the lateral temporal neocortex is also part of the neural substrate for memory processing and executive functions and suggest that this involvement could be related to functions devoted to specific subregions of the temporal lobe (i.e., temporal pole, inferior and basal regions) that support language and semantic processing.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neurodevelopmental disorders. Variants in KCNB1 have been recently reported in patients with early-onset DEE. KCNB1 encodes the α subunit of the delayed rectifier voltage-dependent potassium channel Kv 2.1. We review the 37 previously reported patients carrying 29 distinct KCNB1 variants and significantly expand the mutational spectrum describing 18 novel variants from 27 unreported patients. Most variants occur de novo and mainly consist of missense variants located on the voltage sensor and the pore domain of Kv 2.1. We also report the first inherited variant (p.Arg583*). KCNB1-related encephalopathies encompass a wide spectrum of neurodevelopmental disorders with predominant language difficulties and behavioral impairment. Eighty-five percent of patients developed epilepsies with variable syndromes and prognosis. Truncating variants in the C-terminal domain are associated with a less-severe epileptic phenotype. Overall, this report provides an up-to-date review of the mutational and clinical spectrum of KCNB1, strengthening its place as a causal gene in DEEs and emphasizing the need for further functional studies to unravel the underlying mechanisms.

Functional disconnection of associative cortical areas predicts performance during BCI training.

Brain-computer interfaces (BCIs) have been largely developed to allow communication, control, and neurofeedback in human beings. Despite their great potential, BCIs perform inconsistently across individuals and the neural processes that enable humans to achieve good control remain poorly understood. To address this question, we performed simultaneous high-density electroencephalographic (EEG) and magnetoencephalographic (MEG) recordings in a motor imagery-based BCI training involving a group of healthy subjects. After reconstructing the signals at the cortical level, we showed that the reinforcement of motor-related activity during the BCI skill acquisition is paralleled by a progressive disconnection of associative areas which were not directly targeted during the experiments. Notably, these network connectivity changes reflected growing automaticity associated with BCI performance and predicted future learning rate. Altogether, our findings provide new insights into the large-scale cortical organizational mechanisms underlying BCI learning, which have implications for the improvement of this technology in a broad range of real-life applications.

Temporal pole epilepsy surgery-Sparing the hippocampus.

Temporal pole epilepsy (TPE) is a poorly known and difficult to individualize subtype of temporal lobe epilepsy. Consequently, in drug-resistant TPE, there is still a debate on the need for a large surgical removal of the temporal pole and mesial temporal structures or a limited resection of the temporal pole. We reviewed all patients who underwent presurgical evaluation for drug-resistant epilepsy over a 17-year period, and report here 19 patients with proven drug-resistant temporal pole epilepsy who underwent a selective temporal pole resection with respect to mesial structures. Most (15) TPE patients exhibited seizures resembling mesiotemporal seizures, whereas the others exhibited nocturnal hyperkinetic seizures or an association of both seizure types. MRI revealed a temporal pole lesion in 58% of patients. Long-term postoperative outcome after a conservative surgery was excellent: 63% of patients were seizure-free (International League Against Epilepsy [ILAE] 1) at 1-year postsurgery and 78% at 5 years. These results show that TPE has no specific electroclinical features but is a distinct type of temporal lobe epilepsy allowing a conservative surgery. Respecting the mesiotemporal structures is a valid surgical approach for drug-resistant temporal pole epilepsy.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.

OBJECTIVE: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy. METHODS: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE). In addition, we reviewed published cases and provided the long-term outcome in patients older than 12 years from our series and from literature. RESULTS: Our series included 36 patients (21 males, median age = 10 years, range = 1.6 months-34 years). Twenty patients (56%) had DEE with infantile onset seizures (seizure onset = 10 months, range = 10 days-3.5 years), whereas 16 (33%) had DE with late onset epilepsy in 10 (seizure onset = 5 years, range = 18 months-25 years) and without epilepsy in six. Cognitive impairment was more severe in individuals with DEE compared to those with DE. Analysis of 73 individuals with KCNB1 pathogenic variants (36 from our series and 37 published individuals in nine reports) showed developmental delay in all with severe to profound intellectual disability in 67% (n = 41/61) and autistic features in 56% (n = 32/57). Long-term outcome in 22 individuals older than 12 years (14 in our series and eight published individuals) showed poor cognitive, psychiatric, and behavioral outcome. Epilepsy course was variable. Missense variants were associated with more frequent and more severe epilepsy compared to truncating variants. SIGNIFICANCE: Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE to DE with or without epilepsy. Although cognitive impairment is worse in patients with DEE, long-term outcome is poor for most and missense variants are associated with more severe epilepsy outcome. Further understanding of disease mechanisms should facilitate the development of targeted therapies, much needed to improve the neurodevelopmental prognosis.

Evaluation of psychomotor functions in patients with drug-resistant epilepsy.

PURPOSE: This study aimed to describe and analyze psychomotor functions in patients with drug-resistant epilepsy and identify factors associated with psychomotor deficits. METHODS: We performed a prospective case-control study comparing psychomotor skill performances in 40 adult patients and 80 healthy individuals between October 2017 and March 2018. Psychomotor functions were examined in both patients and controls using a full set of specific tests (Rey-Osterrieth complex figure test, Zazzo's cancelation task, Piaget-Head test, and paired images test). Potential risk factors for psychomotor deficit were assessed in the patient group using a multivariate analysis. RESULTS: The two groups did not differ in age, sex, dominant hand, and level of education. Compared with the control group, patients with drug-resistant epilepsy showed worse performance on global psychomotor functions and, more selectively, in assessments exploring perceptual organization and visuospatial memory, laterality awareness, sustained attention, concentration, visual scanning, inhibition, and impulsivity. In the patient group, psychomotor deficits were associated with the severity of epilepsy (epileptic encephalopathy, high seizure frequency, heavy antiepileptic medication). CONCLUSION: Psychomotor deficits could therefore be systematically detected in patients with drug-resistant epilepsy in order to provide psychomotor therapy and improve quality of life.

An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.

PURPOSE: The purpose of the study was to describe epileptologists' opinion on the increased use of remote systems implemented during the COVID-19 pandemic across clinics, education, and scientific meetings activities. METHODS: Between April and May 2020, we conducted a cross-sectional, electronic survey on remote systems use before and during the COVID-19 pandemic through the European reference center for rare and complex epilepsies (EpiCARE) network, the International and the French Leagues Against Epilepsy, and the International and the French Child Neurology Associations. After descriptive statistical analysis, we compared the results of France, China, and Italy. RESULTS: One hundred and seventy-two respondents from 35 countries completed the survey. Prior to the COVID-19 pandemic, 63.4% had experienced remote systems for clinical care. During the pandemic, the use of remote clinics, either institutional or personal, significantly increased (p < 10-4). Eighty-three percent used remote systems with video, either institutional (75%) or personal (25%). During the pandemic, 84.6% of respondents involved in academic activities transformed their courses to online teaching. From February to July 2020, few scientific meetings relevant to epileptologists and routinely attended was adapted to virtual meeting (median: 1 [25th-75th percentile: 0-2]). Responders were quite satisfied with remote systems in all three activity domains. Interestingly, before the COVID-19 pandemic, remote systems were significantly more frequently used in China for clinical activity compared with France or Italy. This difference became less marked during the pandemic. CONCLUSION: The COVID-19 pandemic has dramatically altered how academic epileptologists carry out their core missions of clinical care, medical education, and scientific discovery and dissemination. Close attention to the impact of these changes is merited.