
- <Centre d'Information et de documentation du CRA Rhône-Alpes
- CRA
- Informations pratiques
-
Adresse
Centre d'information et de documentation
Horaires
du CRA Rhône-Alpes
Centre Hospitalier le Vinatier
bât 211
95, Bd Pinel
69678 Bron CedexLundi au Vendredi
Contact
9h00-12h00 13h30-16h00Tél: +33(0)4 37 91 54 65
Mail
Fax: +33(0)4 37 91 54 37
-
Adresse
Auteur J. Lloyd HOLDER
|
|
Documents disponibles écrits par cet auteur (6)
Faire une suggestion Affiner la rechercheCOVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders / Corneliu BOLBOCEAN in Journal of Autism and Developmental Disorders, 53-3 (March 2023)
![]()
[article]
Titre : COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders Type de document : texte imprimé Auteurs : Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur Article en page(s) : p.1000-1016 Langues : Anglais (eng) Index. décimale : PER Périodiques Résumé : Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver?s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions. En ligne : https://doi.org/10.1007/s10803-022-05619-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1000-1016[article] COVID-19 Induced Environments, Health-Related Quality of Life Outcomes and Problematic Behaviors: Evidence from Children with Syndromic Autism Spectrum Disorders [texte imprimé] / Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur . - p.1000-1016.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 53-3 (March 2023) . - p.1000-1016
Index. décimale : PER Périodiques Résumé : Between July 2020 and January 2021, 230 principal caregivers completed a questionnaire to measure proxy-assessed health-related quality of life outcomes (HRQoL), behavioral outcomes in children with syndromic autism spectrum disorders and COVID-19 induced changes to lifestyle and environments. HRQoL and behavioral outcomes reported earlier during the pandemic were generally worse compared to those reported later. COVID-19 induced reduction to a caregiver?s mental health appointments, and hours spent watching TV were associated with decreases in HRQoL and increased the likelihood of problematic behaviors. Increasing time outdoors and time away from digital devices were positively associated with HRQoL and behaviors and might protect children from COVID-19 induced restrictions. En ligne : https://doi.org/10.1007/s10803-022-05619-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=500 Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations / Silvia DE RUBEIS in Molecular Autism, 9 (2018)
![]()
[article]
Titre : Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations Type de document : texte imprimé Auteurs : Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur Article en page(s) : 31p. Langues : Anglais (eng) Mots-clés : Adolescent Adult Child Child, Preschool Chromosome Deletion Chromosome Disorders/genetics/pathology Chromosomes, Human, Pair 22/genetics Female Haploinsufficiency Humans Male Nerve Tissue Proteins/genetics Phenotype Point Mutation 22q13 deletion syndrome Autism spectrum disorder Intellectual disability Phelan-McDermid syndrome shank3 Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371
in Molecular Autism > 9 (2018) . - 31p.[article] Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations [texte imprimé] / Silvia DE RUBEIS, Auteur ; Paige M. SIPER, Auteur ; Allison DURKIN, Auteur ; Jordana WEISSMAN, Auteur ; François MURATET, Auteur ; Danielle B. HALPERN, Auteur ; Maria Del Pilar TRELLES, Auteur ; Yitzchak FRANK, Auteur ; Reymundo LOZANO, Auteur ; A. Ting WANG, Auteur ; J. Lloyd HOLDER, Auteur ; Catalina BETANCUR, Auteur ; Joseph D. BUXBAUM, Auteur ; Alexander KOLEVZON, Auteur . - 31p.
Langues : Anglais (eng)
in Molecular Autism > 9 (2018) . - 31p.
Mots-clés : Adolescent Adult Child Child, Preschool Chromosome Deletion Chromosome Disorders/genetics/pathology Chromosomes, Human, Pair 22/genetics Female Haploinsufficiency Humans Male Nerve Tissue Proteins/genetics Phenotype Point Mutation 22q13 deletion syndrome Autism spectrum disorder Intellectual disability Phelan-McDermid syndrome shank3 Sequence variants Index. décimale : PER Périodiques Résumé : Background: Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder characterized by psychiatric and neurological features. Most reported cases are caused by 22q13.3 deletions, leading to SHANK3 haploinsufficiency, but also usually encompassing many other genes. While the number of point mutations identified in SHANK3 has increased in recent years due to large-scale sequencing studies, systematic studies describing the phenotype of individuals harboring such mutations are lacking. Methods: We provide detailed clinical and genetic data on 17 individuals carrying mutations in SHANK3. We also review 60 previously reported patients with pathogenic or likely pathogenic SHANK3 variants, often lacking detailed phenotypic information. Results: SHANK3 mutations in our cohort and in previously reported cases were distributed throughout the protein; the majority were truncating and all were compatible with de novo inheritance. Despite substantial allelic heterogeneity, four variants were recurrent (p.Leu1142Valfs*153, p.Ala1227Glyfs*69, p.Arg1255Leufs*25, and c.2265+1G>A), suggesting that these are hotspots for de novo mutations. All individuals studied had intellectual disability, and autism spectrum disorder was prevalent (73%). Severe speech deficits were common, but in contrast to individuals with 22q13.3 deletions, the majority developed single words, including 41% with at least phrase speech. Other common findings were consistent with reports among individuals with 22q13.3 deletions, including hypotonia, motor skill deficits, regression, seizures, brain abnormalities, mild dysmorphic features, and feeding and gastrointestinal problems. Conclusions: Haploinsufficiency of SHANK3 resulting from point mutations is sufficient to cause a broad range of features associated with PMS. Our findings expand the molecular and phenotypic spectrum of PMS caused by SHANK3 point mutations and suggest that, in general, speech impairment and motor deficits are more severe in the case of deletions. In contrast, renal abnormalities associated with 22q13.3 deletions do not appear to be related to the loss of SHANK3. En ligne : https://dx.doi.org/10.1186/s13229-018-0205-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=371 Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers / Corneliu BOLBOCEAN in Journal of Autism and Developmental Disorders, 52-3 (March 2022)
![]()
[article]
Titre : Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers Type de document : texte imprimé Auteurs : Corneliu BOLBOCEAN, Auteur ; Fabiola N. ANDÚJAR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur Article en page(s) : p.1334-1345 Langues : Anglais (eng) Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Caregivers Child Chromosome Disorders/genetics Humans Intellectual Disability/diagnosis Quality of Life Autism spectrum disorder Beach center family quality of life Clinical research Diabetes Health related quality of life Idiopathic autism Intellectual disability Pediatric quality of life inventory Phelan-McDermid syndrome Rett syndrome SYNGAP1 related intellectual disability Index. décimale : PER Périodiques Résumé : Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in children diagnosed with three genetic disorders that strongly predispose to syndromic autism: Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). We find the most severely impacted dimension is physical functioning. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. En ligne : http://dx.doi.org/10.1007/s10803-021-05030-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345[article] Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers [texte imprimé] / Corneliu BOLBOCEAN, Auteur ; Fabiola N. ANDÚJAR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur . - p.1334-1345.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 52-3 (March 2022) . - p.1334-1345
Mots-clés : Autism Spectrum Disorder/genetics Autistic Disorder Caregivers Child Chromosome Disorders/genetics Humans Intellectual Disability/diagnosis Quality of Life Autism spectrum disorder Beach center family quality of life Clinical research Diabetes Health related quality of life Idiopathic autism Intellectual disability Pediatric quality of life inventory Phelan-McDermid syndrome Rett syndrome SYNGAP1 related intellectual disability Index. décimale : PER Périodiques Résumé : Children with autism have a significantly lower quality of life compared with their neurotypical peers. While multiple studies have quantified the impact of autism on health-related quality of life (HRQoL) through standardized surveys such as the PedsQL, none have specifically investigated the impact of syndromic autism. Here we evaluate HRQoL in children diagnosed with three genetic disorders that strongly predispose to syndromic autism: Phelan-McDermid syndrome (PMD), Rett syndrome (RTT), and SYNGAP1-related intellectual disability (SYNGAP1-ID). We find the most severely impacted dimension is physical functioning. Strikingly, syndromic autism results in worse quality of life than other chronic disorders including idiopathic autism. This study demonstrates the utility of caregiver surveys in prioritizing phenotypes, which may be targeted as clinical endpoints for genetically defined ASDs. En ligne : http://dx.doi.org/10.1007/s10803-021-05030-8 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=455 Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression / Andres JIMENEZ-GOMEZ in Journal of Neurodevelopmental Disorders, 11-1 (December 2019)
![]()
[article]
Titre : Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression Type de document : texte imprimé Auteurs : Andres JIMENEZ-GOMEZ, Auteur ; Sizhe NIU, Auteur ; Fabiola ANDUJAR-PEREZ, Auteur ; Elizabeth A. MCQUADE, Auteur ; Alfred BALASA, Auteur ; David HUSS, Auteur ; Rohini COORG, Auteur ; Michael QUACH, Auteur ; Sherry VINSON, Auteur ; Sarah RISEN, Auteur ; J. Lloyd HOLDER, Auteur Article en page(s) : 18 p. Langues : Anglais (eng) Mots-clés : Autism Electroencephalogram Neurodevelopment Posterior dominant rhythm Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. METHODS: A retrospective clinical data analysis of individuals with SYNGAP1 mutations was conducted. Data included genetic diagnosis, clinical history and examinations, neurophysiologic data, neuroimaging, and serial neurodevelopmental/behavioral assessments. All patients were seen longitudinally within a 6-year period; data analysis was completed on June 30, 2018. Records for all individuals diagnosed with deleterious SYNGAP1 variants (by clinical sequencing or exome sequencing panels) were reviewed. RESULTS: Fifteen individuals (53% male) with seventeen unique SYNGAP1 mutations are reported. Mean age at genetic diagnosis was 65.9 months (28-174 months). All individuals had epilepsy, with atypical absence seizures being the most common semiology (60%). EEG abnormalities included intermittent rhythmic delta activity (60%), slow or absent posterior dominant rhythm (87%), and epileptiform activity (93%), with generalized discharges being more common than focal. Neuroimaging revealed nonspecific abnormalities (53%). Neurodevelopmental evaluation revealed impairment in all individuals, with gross motor function being the least affected. Autism spectrum disorder was diagnosed in 73% and aggression in 60% of cases. Analysis of biomarkers revealed a trend toward a moderate positive correlation between visual-perceptual/fine motor/adaptive skills and language development, with posterior dominant rhythm on electroencephalogram (EEG), independent of age. No other neurophysiology-development associations or correlations were identified. CONCLUSIONS: A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker. En ligne : https://dx.doi.org/10.1186/s11689-019-9276-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 18 p.[article] Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression [texte imprimé] / Andres JIMENEZ-GOMEZ, Auteur ; Sizhe NIU, Auteur ; Fabiola ANDUJAR-PEREZ, Auteur ; Elizabeth A. MCQUADE, Auteur ; Alfred BALASA, Auteur ; David HUSS, Auteur ; Rohini COORG, Auteur ; Michael QUACH, Auteur ; Sherry VINSON, Auteur ; Sarah RISEN, Auteur ; J. Lloyd HOLDER, Auteur . - 18 p.
Langues : Anglais (eng)
in Journal of Neurodevelopmental Disorders > 11-1 (December 2019) . - 18 p.
Mots-clés : Autism Electroencephalogram Neurodevelopment Posterior dominant rhythm Syngap1 Index. décimale : PER Périodiques Résumé : BACKGROUND: The SYNGAP1 gene encodes for a small GTPase-regulating protein critical to dendritic spine maturation and synaptic plasticity. Mutations have recently been identified to cause a breadth of neurodevelopmental disorders including autism, intellectual disability, and epilepsy. The purpose of this work is to define the phenotypic spectrum of SYNGAP1 gene mutations and identify potential biomarkers of clinical severity and developmental progression. METHODS: A retrospective clinical data analysis of individuals with SYNGAP1 mutations was conducted. Data included genetic diagnosis, clinical history and examinations, neurophysiologic data, neuroimaging, and serial neurodevelopmental/behavioral assessments. All patients were seen longitudinally within a 6-year period; data analysis was completed on June 30, 2018. Records for all individuals diagnosed with deleterious SYNGAP1 variants (by clinical sequencing or exome sequencing panels) were reviewed. RESULTS: Fifteen individuals (53% male) with seventeen unique SYNGAP1 mutations are reported. Mean age at genetic diagnosis was 65.9 months (28-174 months). All individuals had epilepsy, with atypical absence seizures being the most common semiology (60%). EEG abnormalities included intermittent rhythmic delta activity (60%), slow or absent posterior dominant rhythm (87%), and epileptiform activity (93%), with generalized discharges being more common than focal. Neuroimaging revealed nonspecific abnormalities (53%). Neurodevelopmental evaluation revealed impairment in all individuals, with gross motor function being the least affected. Autism spectrum disorder was diagnosed in 73% and aggression in 60% of cases. Analysis of biomarkers revealed a trend toward a moderate positive correlation between visual-perceptual/fine motor/adaptive skills and language development, with posterior dominant rhythm on electroencephalogram (EEG), independent of age. No other neurophysiology-development associations or correlations were identified. CONCLUSIONS: A broad spectrum of neurologic and neurodevelopmental features are found with pathogenic variants of SYNGAP1. An abnormal posterior dominant rhythm on EEG correlated with abnormal developmental progression, providing a possible prognostic biomarker. En ligne : https://dx.doi.org/10.1186/s11689-019-9276-y Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=409 Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships / Corneliu BOLBOCEAN in Autism Research, 15-12 (December 2022)
![]()
[article]
Titre : Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships Type de document : texte imprimé Auteurs : Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur Article en page(s) : p.2381-2398 Langues : Anglais (eng) Mots-clés : Humans Parenting Quality of Life Intellectual Disability/epidemiology covid-19 Autistic Disorder/epidemiology Pandemics Autism Spectrum Disorder Parents Parent-Child Relations Covid-19 Phelan-McDermid syndrome Rett syndrome Syngap1-id autism families of autistic children intellectual disabilities resilience Index. décimale : PER Périodiques Résumé : Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families' resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. En ligne : http://dx.doi.org/10.1002/aur.2825 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488
in Autism Research > 15-12 (December 2022) . - p.2381-2398[article] Resilience, and positive parenting in parents of children with syndromic autism and intellectual disability. Evidence from the impact of the COVID-19 pandemic on family's quality of life and parent-child relationships [texte imprimé] / Corneliu BOLBOCEAN, Auteur ; Kayla B. RHIDENOUR, Auteur ; Maria MCCORMACK, Auteur ; Bernhard SUTER, Auteur ; J. Lloyd HOLDER, Auteur . - p.2381-2398.
Langues : Anglais (eng)
in Autism Research > 15-12 (December 2022) . - p.2381-2398
Mots-clés : Humans Parenting Quality of Life Intellectual Disability/epidemiology covid-19 Autistic Disorder/epidemiology Pandemics Autism Spectrum Disorder Parents Parent-Child Relations Covid-19 Phelan-McDermid syndrome Rett syndrome Syngap1-id autism families of autistic children intellectual disabilities resilience Index. décimale : PER Périodiques Résumé : Family quality of life (FQoL) outcomes collected during the first year of COVID-19 has been combined with 2018 data to estimate the outbreak's impact on parental outcomes on a sample of 230 families with syndromic autistic children and those with intellectual disabilities (IDs). Despite challenges imposed by the COVID-19 outbreak, our study found that FQoL outcomes reported by participating parents during the first year of COVID-19 appears to be similar to ratings from a prepandemic study of families with the same conditions. Parents of children in our sample generally displayed a stable functioning trajectory as measured by the validated FQoL instrument. Across syndromic autistic groups considered, families reported that their relationships with their children were positive. Our findings provide evidence of families' resilience which might explain the presence of positive parent-child interactions during COVID-19. Exploring mechanisms which would explain how families with autistic and ID children confront, manage disruptive experiences, and buffer COVID-19 induced stress is a fruitful direction for future research. En ligne : http://dx.doi.org/10.1002/aur.2825 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=488 The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators / Monica WELDON in Journal of Neurodevelopmental Disorders, 10-1 (December 2018)
![]()
Permalink

