Patrick Van Bogaert

University of Angers | UA · Faculté de médecine

Epilepsy is a neurological disorder characterized by recurrent epileptic seizures, which are often unpredictable and increase mortality and morbidity risks. Objective: The objective of this study is to address the challenges of EEG-based epileptic seizure detection by introducing a novel methodology, Deep Embedded Gaussian Mixture (DEGM). Method...

Hyperpolarization activated Cyclic Nucleotide (HCN) gated channels are crucial for various neurophysiological functions, including learning and sensory functions, and their dysfunction are responsible for brain disorders, such as epilepsy. To date, HCN2 variants have only been associated with mild epilepsy and recently, one monoallelic missense var...

Epilepsy is a neurological disorder characterized by recurring seizures, detected by electroencephalography (EEG). EEG signals can be detected by manual time-consuming analysis and recently by automatic detection. The latter poses a significant challenge due to the high dimensional and non-stationary nature of EEG signals. Recently, deep learning (...

Since last 2 decades, High Frequency Oscillations (HFOs) are studied as a promising biomarker to localize the epileptogenic zone of patients with refractory focal epilepsy. As HFOs visual detection is time consuming and subjective, automatization of HFO detection is required. Most HFO detectors were developed on invasive electroencephalograms (iEEG...

Résumé Introduction Le polyhandicap est un terme français apparu dans les années 1960 dans le contexte des institutions médico-sociales. La traduction anglaise la plus proche est PIMD « Profound Intellectual and Multiple Disabilities », mais ces termes reflètent une approche légèrement différente. Des recommandations récentes ont été émises par la...

Developmental and epileptic encephalopathies are conditions where there is developmental impairment related to both the underlying etiology independent of epileptiform activity and the epileptic encephalopathy. Usually they have multiple etiologies. Therefore, long-term outcome is related to both etiology-related factors and epilepsy-related factor...

Background Mitochondrial disorders (MD) are metabolic diseases related to genetic mutations in mitochondrial DNA and nuclear DNA that cause dysfunction of the mitochondrial respiratory chain. Cognitive impairment and psychiatric symptoms are frequently associated with MD in the adult population. The aim of this study is to describe the neuropsychol...

Objective Epilepsy is common in patients with PIGN diseases due to biallelic variants; however, limited epilepsy phenotyping data have been reported. We describe the epileptology of PIGN encephalopathy. Methods We recruited patients with epilepsy due to biallelic PIGN variants and obtained clinical data regarding age at seizure onset/offset and se...

Autosomal dominant and recessive mutations in COL12A1 cause the Ehlers-Danlos/myopathy overlap syndrome. Here, we describe a boy with fetal hypokinesia, severe neonatal weakness, striking hyperlaxity, high arched palate, retrognathia, club feet, and pectus excavatum. His motor development was initially delayed but muscle strength improved with time...

Objective To develop an electrophysiological marker of proprioceptive spino-cortical tracts integrity based on corticokinematic coherence (CKC) in young children with unilateral cerebral palsy (UCP), in whom behavioral measures are not applicable. Methods Electroencephalography (EEG) signals from 12 children with UCP aged 19 to 57 months were reco...

Synaptic inhibition is essential for shaping the dynamics of neuronal networks, and aberrant inhibition is linked to epilepsy. Gephyrin (Geph) is the principal scaffolding protein at inhibitory synapses and is essential for postsynaptic clustering of glycine (GlyRs) and GABA type A receptors (GABAARs). Consequently, gephyrin is crucial for maintain...

Background Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. Methods We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a...

Objectives To describe neurological characteristics and CNS involvement on MRI in secondary hemophagocytic lymphohistiocytosis (sHLH) and differentiate it from primary hemophagocytic lymphohistiocytosis (pHLH) and acute disseminated encephalomyelitis (ADEM). Methods Nine children with sHLH who had neurological symptoms were retrospectively include...

Background: Mitochondrial disorders (MD) are a group of clinically heterogeneous genetic disorders resulting from dysfunction of the mitochondrial respiratory chain. Cognitive impairment is a common feature in adults with MD and psychiatric symptoms are associated with MD in up to 70% of the adult population. The aim of this study is to describe th...

Plasticity of synaptic strength and density is a vital mechanism enabling memory consolidation, learning, and neurodevelopment. It is strongly dependent on the intact function of N-methyl-D-aspartate receptors (NMDAR). The importance of NMDAR is further evident as their dysfunction is involved in many diseases such as schizophrenia, Alzheimer's dis...

CACNA1A pathogenic mutations are involved in various neurological phenotypes including episodic ataxia (EA2), spinocerebellar ataxia (SCA6), and familial hemiplegic migraine (FHM1). Epilepsy is poorly documented. We studied 18 patients (10 males) carrying de novo or inherited CACNA1A mutations, with median age of 2,5 years at epilepsy onset. Eight...

Objective: To characterize the electro-clinical presentation of patients with pyridoxine-dependent epilepsy (PDE) and pyridoxal phosphate (PLP)-dependent epilepsy in order to determine whether some of them could be diagnosed as de novo West syndrome, i. e., West syndrome that starts after the age of 2 months without other types of seizures (focal s...

Primary microcephaly (PM) is defined as a significant reduction in occipito-frontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. We performed detailed phenotypic and genomic analyses in a large cohort (n=169) of patients referred for PM, and could establish a molecular diagnosis...

Purpose To determine whether awake EEG criteria can differentiate epileptic encephalopathy with continuous spike and waves during sleep (EE-CSWS) at the time of cognitive regression from typical, self-limited focal epilepsy (SFE). Methods This retrospective case-control study was based on the analysis of awake EEGs and included 15 patients with EE...

Purpose: To determine whether awake EEG criteria can differentiate epileptic encephalopathy with continuous spike and waves during sleep (EE-CSWS) at the time of cognitive regression from typical, self-limited focal epilepsy (SFE). Methods: This retrospective case-control study was based on the analysis of awake EEGs and included 15 patients with...

COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missense mutation in the COL4A1 gene exon 30 in a three g...

Mitochondrial diseases (MDs) are a group of clinically heterogeneous genetic disorders that arise as the result of dysfunctional mitochondria. Only few medical articles deal with neuropsychological or psychiatric aspects of MDs. Aim The present article aims to provide a systematic review of neuropsychological and psychiatric aspects of MDs. Metho...

Epileptic encephalopathy with continuous spike and waves during slow-wave sleep (CSWS) is a spectrum of epileptic conditions best defined by the association of cognitive or behavioral impairment acquired during childhood and not related to another factor than the presence of abundant interictal epileptiform discharges (IEDs) during sleep, which ten...

Objective Maternal obesity is associated with an increase in maternal, foetal and neonatal morbidity and mortality. The aim of our study was to evaluate the relationships between maternal pre-pregnancy body mass index and (1) neonatal outcome in preterm infants, and (2) neurodevelopmental outcome at 2 years of corrected age. Method We conducted a...

In epilepsy syndromes of childhood with sleep activation, defined as the spectrum of epileptic conditions going from classical benign childhood epilepsy with centrotemporal spikes (BECTS) to epileptic encephalopathy (EE) with continuous spike and waves during slow-wave sleep (CSWS) including Landau-Kleffner syndrome (LKS), a lot of functional imagi...

Epilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing gene of this disease. Currently, the data on epilepsy of infancy with migrating focal seizures associated with KCNT1 mutations are heterogeneous and many questions remain unanswered in...

Cerebral palsy (CP), an umbrella term for a developmental motor disorder caused by early brain injury (EBI)/interference, remains debated. In this essay, we present a narrative, beginning with the original anatomical-clinical description of the so-called paralysie congéniale (congenial paralysis) by the French psychiatrist Jean-Baptiste Cazauvieilh...

Various specific early rehabilitation strategies are proposed to decrease functional disabilities in patients with cerebral palsy (CP). These strategies are thought to favour the mechanisms of brain plasticity that take place after brain injury. However, the level of evidence is low. Markers of brain plasticity would favour validation of these reha...

Functional Connectivity (FC) is a powerful tool to investigate brain networks both in rest and while performing tasks. Functional magnetic resonance imaging (fMRI) gave good spatial estimation of FC but lacked the temporal resolution. Electroencephalography (EEG) allows estimating FC with good temporal resolution. In this study we introduce a new m...

In the last three decades, studies on functional neuroimaging have helped us to understand pathophysiological mechanisms responsible for electro-clinical patterns associated with epileptic encephalopathies with continuous spikes and waves during slow sleep (ECSWS). MEG and EEG source reconstruction have revealed sources of pathological brain activi...

Opsoclonus consists of massive erratic rapid eye jerks. They may occur in isolation or in association with myoclonus and ataxia, i.e., opsoclonus-myoclonus syndrome (OMS). We report the case of a 9-year-old girl who suffered from headaches for several days and was shown to have opsoclonus and left peripheral facial palsy. Work-up excluded the diagn...

We propose new multichannel time-frequency complexity measures to evaluate differences on magnetoencephalograpy (MEG) recordings between healthy young and old subjects at rest at different spatial scales. After reviewing the Renyi and singular value decomposition entropies based on time-frequency representations, we introduce multichannel generaliz...

Study question: Is assisted conception associated with neonatal morbidity and mortality and with neurodevelopmental impairment at 2 years of corrected age in preterm infants born before 34 weeks of gestational age? Summary answer: Assisted conception is not associated with an increase in neonatal morbidity and mortality and is even significantly...

This paper introduces an entropy based method that measures complexity in non-stationary multivariate signals. This method, called Mutivariate Improved Weighted Multiscale Permutation Entropy (mvIWMPE), has two main advantages: (i) it shows lower variance for the results when applied on a wide range of multivariate signals; (ii) it has good accurac...

Les troubles spécifiques des apprentissages sont définis par exclusion d’une déficience intellectuelle, d’un déficit sensoriel et d’une affection neurologique avérée. L’épilepsie est donc un critère d’exclusion d’un trouble spécifique d’apprentissage. Cependant, de nombreux enfants épileptiques montrent des troubles d’apprentissage plus importants...

Attention‐deficit/hyperactivity disorder (ADHD) is a common and challenging comorbidity affecting many children with epilepsy. A working group under the International League Against Epilepsy (ILAE) Pediatric Commission identified key questions on the identification and management of ADHD in children with epilepsy. Systematic reviews of the evidence...

Objective: To discover short-term changes in perspectives of parents and teachers of childhood brain tumour survivors on school reintegration, in order to reveal similarities and differences between them over time. Methods: Semi-structured interviews were conducted with parents and teachers of five children at the start and the end of a 1-year per...

Introduction/Background Children suffering from generalized spasticity may experience pain and discomfort. The use of intrathecal baclofen therapy (ITB) had already proved its efficiency in case of diffuse and severe spasticity. Injections of intramuscular botulinum toxin can be associated with this treatment. To our knowledge, there is no study sp...

Introduction/Background Children suffering from generalized spasticity may experience pain and discomfort. The use of intrathecal baclofen therapy (ITB) had already proved its efficiency in case of diffuse and severe spasticity. Injections of intramuscular botulinum toxin can be associated with this treatment. To our knowledge, there's no study spe...

SpikeDet, a SPM EEG Spike detection toolbox, allows to detect spikes in an EEG record by using a fully automated method described in [Nonclercq2012] and based on [Nonclercq2009]: We propose a fully automated method of interictal spike detection that adapts to interpatient and intrapatient variation in spike morphology. The algorithm works in five...

Objective: Our goal is to use existing and to propose new time-frequency entropy measures that objectively evaluate the improvement on epileptic patients after medication by studying their resting state EEG recordings. An increase in the complexity of the signals would confirm an improvement in the general state of the patient. Methods: We revie...

Reintegration into school is a milestone for childhood brain tumor survivors, as well as for their parents, teachers, and healthcare providers. We explored their experiences following the school re-entry by conducting semi-structured interviews. Thematic analysis resulted in four main themes: “school performance,” “psychosocial well-being,” “suppor...

Epileptic encephalopathies with continuous spike‐and‐waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense...

This article aims to discuss if the underlying etiology is an important determinant of atypical evolution of idiopathic focal epilepsy (IFE) in childhood and if there might be biomarkers that would predict atypical evolution. It appears that the determinants of atypical evolution remain largely unknown but that both genetic and epigenetic factors a...

The aim of this study was to investigate the age-related changes in resting-state neurometabolic connectivity from childhood to adulthood (6-50 years old). Fifty-four healthy adult subjects and twenty-three pseudo-healthy children underwent [18F]-fluorodeoxyglucose positron emission tomography at rest. Using statistical parametric mapping (SPM8), a...

RFT1-congenital disorder of glycosylation (CDG) syndrome, a recessive N-glycosylation disorder caused by mutation in the RFT1 gene, is a very rare subtype of CDG syndrome associated with deafness, developmental delay, and non-specific epilepsy. The aim of this report is to describe the electroclinical presentation of epilepsy associated with this c...

Using a continuous listening task, we evaluated the coupling between the listener’s cortical activity and the temporal envelopes of different sounds in a multitalker auditory scene using magnetoencephalography and corticovocal coherence analysis. Neuromagnetic signals were recorded from 20 right-handed healthy adult humans who listened to five diff...

Aims of the study: This study investigates the effect of movement rate on the coupling between cortical magnetoencephalographic (MEG) signals and the kinematics of repetitive active finger movements, i.e., the corticokinematic coherence (CKC). Material and methods: CKC was evaluated in ten right-handed healthy adults performing repetitive flexio...

To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), inclu...

Spatial leakage effects are particularly confounding for seed-based investigations of brain networks using source-level electroencephalography (EEG) or magnetoencephalography (MEG). Various methods designed to avoid this issue have been introduced but are limited to particular assumptions about its temporal characteristics. Here, we investigate the...

Advances in pediatric medicine have enabled a decrease in perinatal mortality, especially among infants born preterm (< 32 weeks gestational age) or low birth weight (< 1.500 g). However, this population is exposed to a greater risk of neurological sequelae. This is why the creation of specific follow-up program are mandatory to screen at-risk chil...

Evidence-based guidelines, or recommendations, for the management of infants with seizures are lacking. A Task Force of the Commission of Pediatrics developed a consensus document addressing diagnostic markers, management interventions, and outcome measures for infants with seizures. Levels of evidence to support recommendations and statements were...

Motor information conveyed by viewing the kinematics of an agent's action helps to predict how the action will unfold. Still, how observed movement kinematics is processed in the brain remains to be clarified. Here, we used magnetoencephalography (MEG) to determine at which frequency and where in the brain, the neural activity is coupled with the k...

Introduction Bilateral Fronto-Parietal Polymicrogyria type 1 (BFPP1; OMIM 606854) is an autosomic recessive affection usually linked to GPR56. Clinical (mental retardation, cerebellar signs, severe psychomotor delay and symptomatic generalized epilepsy) and radiological (bilateral fronto-parietal polymicrogyria with an anterior to posterior gradien...

Fever-associated syndromic epilepsies ranging from febrile seizures plus (FS+) to Dravet syndrome have a significant genetic component. However, apart from SCN1A mutations in >80% of patients with Dravet syndrome, the genetic underpinnings of these epilepsies remain largely unknown. Therefore, we performed a genome-wide screening for copy number va...

Long-acting medications have been developed and approved for use in the treatment of attention-deficit hyperactivity disorder (ADHD). These compounds are intended to optimize and maintain symptoms control throughout the day. We tested prolonged effects of osmotic-release oral system methylphenidate on both attention and inhibition, in the late afte...

We report two brothers, aged 14 and 16, with a mild intellectual deficiency. Both brothers presented recurrent episodes of generalized weakness following effort since the age of 4. At the age of 8, after spending twenty minutes playing in a swimming pool, the youngest brother presented an episode of weakness, together with a painful swelling of the...