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Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism / Kazuhiro YAMAKAWA
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Titre : Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism Type de document : Texte imprimé et/ou numérique Auteurs : Kazuhiro YAMAKAWA, Auteur Année de publication : 2016 Importance : p.233-251 Langues : Anglais (eng) Mots-clés : Autism Dravet syndrome Epilepsy Intellectual disability Nav1.1 Nav1.2 Parvalbumin inhibitory neuron SCN1A SCN2A Sodium channel Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations of SCN1A and SCN2A were found in a wide spectrum of epilepsies, intellectual disability, and autism. Nav1.1 protein encoded by SCN1A is densely expressed in parvalbumin-positive inhibitory interneurons and moderately in a subpopulation of excitatory neurons. Dravet syndrome model mice (SCN1A+/?) showed epileptic seizure, sudden death, and autistic behavior similar to patients, and conditional knockout mice studies revealed that Nav1.1 haploinsufficiency in inhibitory neurons is the primary cause for those features and that in excitatory neurons it is contrarily ameliorating for seizures and sudden death. Whole-exome sequencing studies on hundreds of autistic patients also showed SCN1A de novo loss of function mutations, but those of SCN2A were far more dominated. SCN2A mutations also appear in patients with epileptic encephalopathies, but those are mostly missense suggesting gain-of-function. Dominant expression of Nav1.2 encoded by SCN2A in excitatory neurons may explain the afebrile nature of the disease and suggest distinct pathological cascades for those with SCN1A mutations. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00015-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Mutations of Voltage-Gated Sodium Channel Genes SCN1A and SCN2A in Epilepsy, Intellectual Disability, and Autism [Texte imprimé et/ou numérique] / Kazuhiro YAMAKAWA, Auteur . - 2016 . - p.233-251.
in Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual Disability / Carlo SALA
Langues : Anglais (eng)
Mots-clés : Autism Dravet syndrome Epilepsy Intellectual disability Nav1.1 Nav1.2 Parvalbumin inhibitory neuron SCN1A SCN2A Sodium channel Index. décimale : SCI-D SCI-D - Neurosciences Résumé : Mutations of SCN1A and SCN2A were found in a wide spectrum of epilepsies, intellectual disability, and autism. Nav1.1 protein encoded by SCN1A is densely expressed in parvalbumin-positive inhibitory interneurons and moderately in a subpopulation of excitatory neurons. Dravet syndrome model mice (SCN1A+/?) showed epileptic seizure, sudden death, and autistic behavior similar to patients, and conditional knockout mice studies revealed that Nav1.1 haploinsufficiency in inhibitory neurons is the primary cause for those features and that in excitatory neurons it is contrarily ameliorating for seizures and sudden death. Whole-exome sequencing studies on hundreds of autistic patients also showed SCN1A de novo loss of function mutations, but those of SCN2A were far more dominated. SCN2A mutations also appear in patients with epileptic encephalopathies, but those are mostly missense suggesting gain-of-function. Dominant expression of Nav1.2 encoded by SCN2A in excitatory neurons may explain the afebrile nature of the disease and suggest distinct pathological cascades for those with SCN1A mutations. En ligne : http://dx.doi.org/10.1016/B978-0-12-800109-7.00015-7 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=301 Exemplaires
Code-barres Cote Support Localisation Section Disponibilité aucun exemplaire SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? / Karina A. KRUTH in Molecular Autism, 11 (2020)
[article]
Titre : SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? Type de document : Texte imprimé et/ou numérique Auteurs : Karina A. KRUTH, Auteur ; Tierney M. GRISOLANO, Auteur ; Christopher A. AHERN, Auteur ; Aislinn J. WILLIAMS, Auteur Article en page(s) : 23 p. Langues : Anglais (eng) Mots-clés : Autism spectrum disorder Cell model Induced pluripotent stem cell NaV1.2 Organoid scn2a SCN2A syndrome Sodium channel Index. décimale : PER Périodiques Résumé : Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers' attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel Na(V)1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism. En ligne : http://dx.doi.org/10.1186/s13229-020-00330-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427
in Molecular Autism > 11 (2020) . - 23 p.[article] SCN2A channelopathies in the autism spectrum of neuropsychiatric disorders: a role for pluripotent stem cells? [Texte imprimé et/ou numérique] / Karina A. KRUTH, Auteur ; Tierney M. GRISOLANO, Auteur ; Christopher A. AHERN, Auteur ; Aislinn J. WILLIAMS, Auteur . - 23 p.
Langues : Anglais (eng)
in Molecular Autism > 11 (2020) . - 23 p.
Mots-clés : Autism spectrum disorder Cell model Induced pluripotent stem cell NaV1.2 Organoid scn2a SCN2A syndrome Sodium channel Index. décimale : PER Périodiques Résumé : Efforts to identify the causes of autism spectrum disorders have highlighted the importance of both genetics and environment, but the lack of human models for many of these disorders limits researchers' attempts to understand the mechanisms of disease and to develop new treatments. Induced pluripotent stem cells offer the opportunity to study specific genetic and environmental risk factors, but the heterogeneity of donor genetics may obscure important findings. Diseases associated with unusually high rates of autism, such as SCN2A syndromes, provide an opportunity to study specific mutations with high effect sizes in a human genetic context and may reveal biological insights applicable to more common forms of autism. Loss-of-function mutations in the SCN2A gene, which encodes the voltage-gated sodium channel Na(V)1.2, are associated with autism rates up to 50%. Here, we review the findings from experimental models of SCN2A syndromes, including mouse and human cell studies, highlighting the potential role for patient-derived induced pluripotent stem cell technology to identify the molecular and cellular substrates of autism. En ligne : http://dx.doi.org/10.1186/s13229-020-00330-9 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=427 Brief Report: Retrospective Case Series of Oxcarbazepine for Irritability/Agitation Symptoms in Autism Spectrum Disorder / Jessica F. DOUGLAS in Journal of Autism and Developmental Disorders, 43-5 (May 2013)
[article]
Titre : Brief Report: Retrospective Case Series of Oxcarbazepine for Irritability/Agitation Symptoms in Autism Spectrum Disorder Type de document : Texte imprimé et/ou numérique Auteurs : Jessica F. DOUGLAS, Auteur ; Kevin B. SANDERS, Auteur ; M. Hannah BENNEYWORTH, Auteur ; Jessica L. SMITH, Auteur ; Virginia M. DEJEAN, Auteur ; Susan G. MCGREW, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur Article en page(s) : p.1243-1247 Langues : Anglais (eng) Mots-clés : Antiepileptic Anticonvulsant Mood stabilizer Sodium channel Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5–21) and taking two other psychotropic medications (range 0–4). Fourteen patients (47 %) had a clinical global impression of improvement score of ‘much improved’ during treatment. Ten patients (33 %) showed an improvement on their clinical global impression of severity score. Seven patients (23 %) had a clinically significant adverse event or side effect leading to oxcarbazepine discontinuation. Without a placebo group, it is not possible to evaluate whether oxcarbazepine provides benefit for irritability/agitation symptoms in ASD. The high rate of adverse events suggests its use should be accompanied by caution. En ligne : http://dx.doi.org/10.1007/s10803-012-1661-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195
in Journal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1243-1247[article] Brief Report: Retrospective Case Series of Oxcarbazepine for Irritability/Agitation Symptoms in Autism Spectrum Disorder [Texte imprimé et/ou numérique] / Jessica F. DOUGLAS, Auteur ; Kevin B. SANDERS, Auteur ; M. Hannah BENNEYWORTH, Auteur ; Jessica L. SMITH, Auteur ; Virginia M. DEJEAN, Auteur ; Susan G. MCGREW, Auteur ; Jeremy VEENSTRA-VANDERWEELE, Auteur . - p.1243-1247.
Langues : Anglais (eng)
in Journal of Autism and Developmental Disorders > 43-5 (May 2013) . - p.1243-1247
Mots-clés : Antiepileptic Anticonvulsant Mood stabilizer Sodium channel Pervasive developmental disorder Index. décimale : PER Périodiques Résumé : We examined response to oxcarbazepine prescribed for irritability/agitation symptoms in a retrospective case series of 30 patients with Autism Spectrum Disorder (ASD). The average patient was 12.0 years old (range 5–21) and taking two other psychotropic medications (range 0–4). Fourteen patients (47 %) had a clinical global impression of improvement score of ‘much improved’ during treatment. Ten patients (33 %) showed an improvement on their clinical global impression of severity score. Seven patients (23 %) had a clinically significant adverse event or side effect leading to oxcarbazepine discontinuation. Without a placebo group, it is not possible to evaluate whether oxcarbazepine provides benefit for irritability/agitation symptoms in ASD. The high rate of adverse events suggests its use should be accompanied by caution. En ligne : http://dx.doi.org/10.1007/s10803-012-1661-2 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=195