Kv1.1 deficiency alters repetitive and social behaviors in mice and rescues autistic‐like behaviors due to Scn2a haploinsufficiency

Clinical Spectrum of KCNA1 Mutations: New Insights into Episodic Ataxia and Epilepsy Comorbidity

(2020) Kelsey Paulhus et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2019) Tetsuya Tatsukawa et al.   Molecular Autism

Cardiorespiratory profiling reveals primary breathing dysfunction in Kcna1-null mice: Implications for sudden unexpected death in epilepsy

(2019) Hemangini Dhaibar et al.   NEUROBIOLOGY OF DISEASE

The Autism-Associated Gene Scn2a Contributes to Dendritic Excitability and Synaptic Function in the Prefrontal Cortex

(2019) Perry W.E. Spratt et al.   NEURON

Complete loss of KCNA1 activity causes neonatal epileptic encephalopathy and dyskinesia

(2019) Edgard Verdura et al.   JOURNAL OF MEDICAL GENETICS

NaV1.2 haploinsufficiency in Scn2a knock-out mice causes an autistic-like phenotype attenuated with age

(2019) Isabelle Léna et al.   Scientific Reports

Development-related aberrations in Kv1.1 α-subunit exert disruptive effects on bioelectrical activities of neurons in a mouse model of fragile X syndrome

(2018) Pingping Zhu et al.   PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY

Progress in Understanding and Treating SCN2A -Mediated Disorders

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

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

(2018) Amanda Rogers et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Scn2a deletion improves survival and brain–heart dynamics in the Kcna1-null mouse model of sudden unexpected death in epilepsy (SUDEP)

(2017) Vikas Mishra et al.   HUMAN MOLECULAR GENETICS

Autism spectrum disorder and epileptic encephalopathy: common causes, many questions

(2017) Siddharth Srivastava et al.   Journal of Neurodevelopmental Disorders

The Segregated Expression of Voltage-Gated Potassium and Sodium Channels in Neuronal Membranes: Functional Implications and Regulatory Mechanisms

(2017) Maël Duménieu et al.   Frontiers in Cellular Neuroscience

Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder

(2016) Hyopil Kim et al.   Behavioral and Brain Functions

Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept

(2016) Katherine B. Howell et al.   EPILEPSIA

Adult restoration of Shank3 expression rescues selective autistic-like phenotypes

(2016) Yuan Mei et al.   NATURE

Advancing the understanding of autism disease mechanisms through genetics

(2016) Luis de la Torre-Ubieta et al.   NATURE MEDICINE

Orexin Receptor Antagonism Improves Sleep and Reduces Seizures in Kcna1-null Mice

(2016) Harrison M. Roundtree et al.   SLEEP

Orexin Receptor Antagonism Improves Sleep and Reduces Seizures in Kcna1-null Mice

(2016) Harrison M. Roundtree et al.   SLEEP

The Cognitive and Behavioral Phenotype of the 16p11.2 Deletion in a Clinically Ascertained Population

(2015) Ellen Hanson et al.   BIOLOGICAL PSYCHIATRY

Behavioral changes following a single episode of early-life seizures support the latent development of an autistic phenotype

(2015) Paul B. Bernard et al.   EPILEPSY & BEHAVIOR

Autism Spectrum Disorder and Epilepsy

(2015) Shafali Spurling Jeste et al.   JOURNAL OF CHILD NEUROLOGY

Excess of rare, inherited truncating mutations in autism

(2015) Niklas Krumm et al.   NATURE GENETICS

Pathway-driven discovery of epilepsy genes

(2015) Jeffrey Noebels   NATURE NEUROSCIENCE

Head circumference and brain size in autism spectrum disorder: A systematic review and meta-analysis

(2015) Roberto Sacco et al.   PSYCHIATRY RESEARCH-NEUROIMAGING

Seizures and Epilepsy: An Overview for Neuroscientists

(2015) C. E. Stafstrom et al.   Cold Spring Harbor Perspectives in Medicine

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

Tau Loss Attenuates Neuronal Network Hyperexcitability in Mouse and Drosophila Genetic Models of Epilepsy

(2013) J. K. Holth et al.   JOURNAL OF NEUROSCIENCE

Drug discovery for autism spectrum disorder: challenges and opportunities

(2013) Anirvan Ghosh et al.   NATURE REVIEWS DRUG DISCOVERY

Autism-related behavioral abnormalities in synapsin knockout mice

(2012) Barbara Greco et al.   BEHAVIOURAL BRAIN RESEARCH

Consensus Paper: Pathological Role of the Cerebellum in Autism

(2012) S. Hossein Fatemi et al.   CEREBELLUM

Genetic architecture in autism spectrum disorder

(2012) Bernie Devlin et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Routine developmental and autism screening in an epilepsy care setting

(2012) Breanne Fisher et al.   EPILEPSY & BEHAVIOR

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

(2012) Stephan J. Sanders et al.   NATURE

Chronic Pharmacological mGlu5 Inhibition Corrects Fragile X in Adult Mice

(2012) Aubin Michalon et al.   NEURON

Negative Allosteric Modulation of the mGluR5 Receptor Reduces Repetitive Behaviors and Rescues Social Deficits in Mouse Models of Autism

(2012) J. L. Silverman et al.   Science Translational Medicine

Synapse dysfunction in autism: a molecular medicine approach to drug discovery in neurodevelopmental disorders

(2012) Will Spooren et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders

(2012) Claire S. Leblond et al.   PLoS Genetics

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

(2011) Tara Klassen et al.   CELL

Cell-Type-Dependent Molecular Composition of the Axon Initial Segment

(2009) A. Lorincz et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Wenqin Hu et al.   NATURE NEUROSCIENCE

Repetitive Self-Grooming Behavior in the BTBR Mouse Model of Autism is Blocked by the mGluR5 Antagonist MPEP

(2009) Jill L Silverman et al.   NEUROPSYCHOPHARMACOLOGY

Sleep problems in autism spectrum disorders: Prevalence, nature, & possible biopsychosocial aetiologies

(2009) Amanda L. Richdale et al.   SLEEP MEDICINE REVIEWS

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE