Scn2a Haploinsufficiency in Mice Suppresses Hippocampal Neuronal Excitability, Excitatory Synaptic Drive, and Long-Term Potentiation, and Spatial Learning and Memory

Cell-Type-SpecificShank2Deletion in Mice Leads to Differential Synaptic and Behavioral Phenotypes

(2018) Ryunhee Kim et al.   JOURNAL OF NEUROSCIENCE

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

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

Progress in Understanding and Treating SCN2A -Mediated Disorders

(2018) Stephan J. Sanders et al.   TRENDS IN NEUROSCIENCES

Sexually dimorphic behavior, neuronal activity, and gene expression in Chd8-mutant mice

(2018) Hwajin Jung et al.   NATURE NEUROSCIENCE

Axonal sodium channel NaV1.2 drives granule cell dendritic GABA release and rapid odor discrimination

(2018) Daniel Nunes et al.   PLOS BIOLOGY

GABA Neuronal Deletion of Shank3 Exons 14–16 in Mice Suppresses Striatal Excitatory Synaptic Input and Induces Social and Locomotor Abnormalities

(2018) Taesun Yoo et al.   Frontiers in Cellular Neuroscience

Sodium channel subtypes are differentially localized to pre- and post-synaptic sites in rat hippocampus

(2017) Kenneth W. Johnson et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Targeted sequencing and functional analysis reveal brain-size-related genes and their networks in autism spectrum disorders

(2017) Jinchen Li et al.   MOLECULAR PSYCHIATRY

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

(2017) Holly A F Stessman et al.   NATURE GENETICS

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains

(2017) Madeleine R Geisheker et al.   NATURE NEUROSCIENCE

Forty Years of Sodium Channels: Structure, Function, Pharmacology, and Epilepsy

(2017) William A. Catterall   NEUROCHEMICAL RESEARCH

Dynamics of cortical dendritic membrane potential and spikes in freely behaving rats

(2017) Jason J. Moore et al.   SCIENCE

Genomic diagnosis for children with intellectual disability and/or developmental delay

(2017) Kevin M. Bowling et al.   Genome Medicine

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

(2016) Tychele N. Turner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

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

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

De novo genic mutations among a Chinese autism spectrum disorder cohort

(2016) Tianyun Wang et al.   Nature Communications

Altered mGluR5-Homer scaffolds and corticostriatal connectivity in a Shank3 complete knockout model of autism

(2016) Xiaoming Wang et al.   Nature Communications

Neural circuitry for rat recognition memory

(2015) E.C. Warburton et al.   BEHAVIOURAL BRAIN RESEARCH

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

(2015) Kristiina Tammimies et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Dynamic Regulation ofN-Methyl-d-aspartate (NMDA) and α-Amino-3-hydroxy-5-methyl-4-isoxazolepropionic Acid (AMPA) Receptors by Posttranslational Modifications

(2015) Marc P. Lussier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Whole-genome sequencing of quartet families with autism spectrum disorder

(2015) Ryan K C Yuen et al.   NATURE MEDICINE

Social deficits in IRSp53 mutant mice improved by NMDAR and mGluR5 suppression

(2015) Woosuk Chung et al.   NATURE NEUROSCIENCE

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Trans-synaptic zinc mobilization improves social interaction in two mouse models of autism through NMDAR activation

(2015) Eun-Jae Lee et al.   Nature Communications

Dendritic sodium spikes are required for long-term potentiation at distal synapses on hippocampal pyramidal neurons

(2015) Yujin Kim et al.   eLife

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

(2015) Marta Codina-Solà et al.   Molecular Autism

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

(2014) Teresa Tavassoli et al.   BMC Medical Genetics

Exome sequencing identifies a de novoSCN2Amutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

(2014) Anna-Lena Baasch et al.   EPILEPSIA

‘Neonatal’ Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour

(2014) Elena V. Gazina et al.   HUMAN MOLECULAR GENETICS

Synaptic, transcriptional and chromatin genes disrupted in autism

(2014) Silvia De Rubeis et al.   NATURE

De novo mutations in schizophrenia implicate synaptic networks

(2014) Menachem Fromer et al.   NATURE

Large-scale discovery of novel genetic causes of developmental disorders

(2014) T. W. Fitzgerald et al.   NATURE

The contribution of de novo coding mutations to autism spectrum disorder

(2014) Ivan Iossifov et al.   NATURE

ABHD6 Blockade Exerts Antiepileptic Activity in PTZ-Induced Seizures and in Spontaneous Seizures in R6/2 Mice

(2014) Alipi V. Naydenov et al.   NEURON

Ultrasonic vocalizations in Shank mouse models for autism spectrum disorders: Detailed spectrographic analyses and developmental profiles

(2014) Markus Wöhr   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Molecular identity of axonal sodium channels in human cortical pyramidal cells

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

Action Potential Initiation in Neocortical Inhibitory Interneurons

(2014) Tun Li et al.   PLOS BIOLOGY

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

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

The Physiology of the Axon Initial Segment

(2012) Kevin J. Bender et al.   Annual Review of Neuroscience

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

(2012) Anita Rauch et al.   LANCET

Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function

(2012) Hyejung Won et al.   NATURE

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

(2012) Stephan J. Sanders et al.   NATURE

Signal Processing in the Axon Initial Segment

(2012) Maarten H.P. Kole et al.   NEURON

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

(2012) Joseph D. Buxbaum et al.   NEURON

The Spike-Timing Dependence of Plasticity

(2012) Daniel E. Feldman   NEURON

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

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

Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy

(2011) Tara Klassen et al.   CELL

RNAscope

(2011) Fay Wang et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

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

(2010) Yunxiang Liao et al.   BRAIN

Behavioural phenotyping assays for mouse models of autism

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

Long-term depression in the CNS

(2010) Graham L. Collingridge et al.   NATURE REVIEWS NEUROSCIENCE

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

Differential expression of exon 5 splice variants of sodium channel α subunit mRNAs in the developing mouse brain

(2009) E.V. Gazina et al.   NEUROSCIENCE

Action potential generation requires a high sodium channel density in the axon initial segment

(2008) Maarten H P Kole et al.   NATURE NEUROSCIENCE

Pyramidal neurons: dendritic structure and synaptic integration

(2008) Nelson Spruston   NATURE REVIEWS NEUROSCIENCE

Ultrasonic vocalizations: A tool for behavioural phenotyping of mouse models of neurodevelopmental disorders

(2008) Maria Luisa Scattoni et al.   NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS

Localization and Targeting of Voltage-Dependent Ion Channels in Mammalian Central Neurons

(2008) Helene Vacher et al.   PHYSIOLOGICAL REVIEWS