Scn2a haploinsufficient mice display a spectrum of phenotypes affecting anxiety, sociability, memory flexibility and ampakine CX516 rescues their hyperactivity

Altered hippocampal replay is associated with memory impairment in mice heterozygous for the Scn2a gene

(2018) Steven J. Middleton et al.   NATURE NEUROSCIENCE

DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures

(2018) Matthieu Raveau et al.   NEUROBIOLOGY OF DISEASE

Potentiation of excitatory synaptic transmission ameliorates aggression in mice with Stxbp1 haploinsufficiency

(2017) Hiroyuki Miyamoto et al.   HUMAN MOLECULAR GENETICS

Prevalence and architecture of de novo mutations in developmental disorders

(2017)   NATURE

Modular organization of the brainstem noradrenaline system coordinates opposing learning states

(2017) Akira Uematsu et al.   NATURE NEUROSCIENCE

Activity-dependent signaling: influence on plasticity in circuits controlling fear-related behavior

(2016) Julia L Hill et al.   CURRENT OPINION IN NEUROBIOLOGY

Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation

(2016) Liam S. Carroll et al.   PSYCHIATRIC GENETICS

Glutamate and dopamine in schizophrenia: An update for the 21st century

(2015) Oliver Howes et al.   JOURNAL OF PSYCHOPHARMACOLOGY

Erratum: Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database

(2015) Jinchen Li et al.   MOLECULAR PSYCHIATRY

Systems genetics identifies a convergent gene network for cognition and neurodevelopmental disease

(2015) Michael R Johnson et al.   NATURE NEUROSCIENCE

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

(2014) Teresa Tavassoli et al.   BMC Medical Genetics

Prefrontal Oscillations during Recall of Conditioned and Extinguished Fear in Humans

(2014) E. M. Mueller et al.   JOURNAL OF NEUROSCIENCE

Behavioral Phenotypes for Negative Symptoms in Animal Models of Schizophrenia

(2014) Yoshiaki Miyamoto et al.   JOURNAL OF PHARMACOLOGICAL SCIENCES

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

Prioritization of neurodevelopmental disease genes by discovery of new mutations

(2014) Alexander Hoischen et al.   NATURE NEUROSCIENCE

Fear and Safety Engage Competing Patterns of Theta-Gamma Coupling in the Basolateral Amygdala

(2014) Joseph M. Stujenske et al.   NEURON

Molecular identity of axonal sodium channels in human cortical pyramidal cells

(2014) Cuiping Tian et al.   Frontiers in Cellular Neuroscience

Singular localization of sodium channel β4 subunit in unmyelinated fibres and its role in the striatum

(2014) Haruko Miyazaki et al.   Nature Communications

Detection of Clinically Relevant Genetic Variants in Autism Spectrum Disorder by Whole-Genome Sequencing

(2013) Yong-hui Jiang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Whole genome sequencing identifiesSCN2Amutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

(2013) Marlin Touma et al.   EPILEPSIA

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome

(2013) Ikuo Ogiwara et al.   HUMAN MOLECULAR GENETICS

De novo mutations in epileptic encephalopathies

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Mouse models of gene–environment interactions in schizophrenia

(2013) Geetha Kannan et al.   NEUROBIOLOGY OF DISEASE

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

(2012) Anita Rauch et al.   LANCET

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

(2012) Stephan J. Sanders et al.   NATURE

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders

(2012) Joseph D. Buxbaum et al.   NEURON

Neuronal Dynamics and Neuropsychiatric Disorders: Toward a Translational Paradigm for Dysfunctional Large-Scale Networks

(2012) Peter J. Uhlhaas et al.   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Animal models of schizophrenia

(2011) CA Jones et al.   BRITISH JOURNAL OF PHARMACOLOGY

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Dysbindin-1 modulates prefrontal cortical activity and schizophrenia-like behaviors via dopamine/D2 pathways

(2010) F Papaleo et al.   MOLECULAR PSYCHIATRY

Behavioural phenotyping assays for mouse models of autism

(2010) Jill L. Silverman et al.   NATURE REVIEWS NEUROSCIENCE

Prepulse inhibition and genetic mouse models of schizophrenia

(2009) Susan B. Powell et al.   BEHAVIOURAL BRAIN RESEARCH

Distinct contributions of Nav1.6 and Nav1.2 in action potential initiation and backpropagation

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Cognition in Mouse Models of Schizophrenia Susceptibility Genes

(2009) P. A. Arguello et al.   SCHIZOPHRENIA BULLETIN

Cortical Adenylyl Cyclase 1 Is Required for Thalamocortical Synapse Maturation and Aspects of Layer IV Barrel Development

(2008) T. Iwasato et al.   JOURNAL OF NEUROSCIENCE

Unusual Repertoire of Vocalizations in the BTBR T+tf/J Mouse Model of Autism

(2008) Maria Luisa Scattoni et al.   PLoS One

Impaired long-term memory retention and working memory in sdy mutant mice with a deletion in Dtnbp1, a susceptibility gene for schizophrenia

(2008) Keizo Takao et al.   Molecular Brain