Recent advances in gene therapy for neurodevelopmental disorders with epilepsy

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

(2020) Guy M. Lenk et al.   ANNALS OF NEUROLOGY

In vivo CRISPRa decreases seizures and rescues cognitive deficits in a rodent model of epilepsy

(2020) Gaia Colasante et al.   BRAIN

Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder

(2020) Yunan Gao et al.   BRAIN

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

(2020) Andreas Brunklaus et al.   EPILEPSIA

The promise and challenge of therapeutic genome editing

(2020) Jennifer A. Doudna   NATURE

Continuous evolution of SpCas9 variants compatible with non-G PAMs

(2020) Shannon M. Miller et al.   NATURE BIOTECHNOLOGY

Engineering adeno-associated virus vectors for gene therapy

(2020) Chengwen Li et al.   NATURE REVIEWS GENETICS

Angelman Syndrome: From Mouse Models to Therapy

(2020) Diana C. Rotaru et al.   NEUROSCIENCE

Chromatin accessibility dynamics in a model of human forebrain development

(2020) Alexandro E. Trevino et al.   SCIENCE

Potassium channel dysfunction in human neuronal models of Angelman syndrome

(2020) Alfred Xuyang Sun et al.   SCIENCE

Recent advances in human stem cell-based modeling of Tuberous Sclerosis Complex

(2020) Wardiya Afshar Saber et al.   Molecular Autism

Modifier genes in SCN1A ‐related epilepsy syndromes

(2020) Iris M. de Lange et al.   Molecular Genetics & Genomic Medicine

Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses

(2020) Jonathan M. Levy et al.   Nature Biomedical Engineering

CRISPR-Based Therapeutic Genome Editing: Strategies and In Vivo Delivery by AAV Vectors

(2020) Dan Wang et al.   CELL

Sodium channel epilepsies and neurodevelopmental disorders: from disease mechanisms to clinical application

(2020) Andreas Brunklaus et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

KCNT1‐related epilepsy: An international multicenter cohort of 27 pediatric cases

(2020) Felippe Borlot et al.   EPILEPSIA

Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle

(2020) Katherine Bonnycastle et al.   JOURNAL OF NEUROCHEMISTRY

Mutation-Independent Allele-Specific Editing by CRISPR-Cas9, a Novel Approach to Treat Autosomal Dominant Disease

(2020) Kathleen A. Christie et al.   MOLECULAR THERAPY

Multiplexed Cre-dependent selection yields systemic AAVs for targeting distinct brain cell types

(2020) Sripriya Ravindra Kumar et al.   NATURE METHODS

Anti-CRISPR protein applications: natural brakes for CRISPR-Cas technologies

(2020) Nicole D. Marino et al.   NATURE METHODS

Unconstrained genome targeting with near-PAMless engineered CRISPR-Cas9 variants

(2020) Russell T. Walton et al.   SCIENCE

Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome

(2020) Patrick K. McCamphill et al.   Science Translational Medicine

Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome

(2020) Mirko Luoni et al.   eLife

CRISPR/dCas9-based Scn1a gene activation in inhibitory neurons ameliorates epileptic and behavioral phenotypes of Dravet syndrome model mice

(2020) Tetsushi Yamagata et al.   NEUROBIOLOGY OF DISEASE

In Vivo Repair of a Protein Underlying a Neurological Disorder by Programmable RNA Editing

(2020) John R. Sinnamon et al.   Cell Reports

Identification of a Functional Non-coding Variant in the GABAA Receptor α2 Subunit of the C57BL/6J Mouse Reference Genome: Major Implications for Neuroscience Research

(2019) Megan K. Mulligan et al.   Frontiers in Genetics

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

Adeno-associated Virus (AAV) versus Immune Response

(2019) Joseph Rabinowitz et al.   Viruses-Basel

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

(2019) Heather E. Olson et al.   PEDIATRIC NEUROLOGY

The current state and future directions of RNAi-based therapeutics

(2019) Ryan L. Setten et al.   NATURE REVIEWS DRUG DISCOVERY

Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques

(2019) Raquel Vaz et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

What are neurodevelopmental disorders?

(2019) Fatima Y. Ismail et al.   CURRENT OPINION IN NEUROLOGY

Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy

(2019) Henrike O. Heyne et al.   GENETICS IN MEDICINE

Re-expression of SynGAP protein in adulthood improves translatable measures of brain function and behavior

(2019) Thomas K Creson et al.   eLife

Modeling genetic epilepsies in a dish

(2019) Wei Niu et al.   DEVELOPMENTAL DYNAMICS

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

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

Gene Therapy

(2019) Katherine A. High et al.   NEW ENGLAND JOURNAL OF MEDICINE

A cytosine deaminase for programmable single-base RNA editing

(2019) Omar O. Abudayyeh et al.   SCIENCE

MeCP2 Deficiency Disrupts Kainate-Induced Presynaptic Plasticity in the Mossy Fiber Projections in the Hippocampus

(2019) Maria Laura Bertoldi et al.   Frontiers in Cellular Neuroscience

Human evolved regulatory elements modulate genes involved in cortical expansion and neurodevelopmental disease susceptibility

(2019) Hyejung Won et al.   Nature Communications

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

(2019) Vincenzo Salpietro et al.   Nature Communications

Gene Therapy Tools for Brain Diseases

(2019) Selene Ingusci et al.   Frontiers in Pharmacology

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

(2019) Jillian M. Cameron et al.   Annals of Clinical and Translational Neurology

KCNC1 ‐related disorders: new de novo variants expand the phenotypic spectrum

(2019) Joohyun Park et al.   Annals of Clinical and Translational Neurology

Precise in vivo genome editing via single homology arm donor mediated intron-targeting gene integration for genetic disease correction

(2019) Keiichiro Suzuki et al.   CELL RESEARCH

Synapsin I Synchronizes GABA Release in Distinct Interneuron Subpopulations

(2019) N Forte et al.   CEREBRAL CORTEX

Synaptic vesicle generation from activity‐dependent bulk endosomes requires a dephosphorylation‐dependent dynamin‐syndapin interaction

(2019) Giselle Cheung et al.   JOURNAL OF NEUROCHEMISTRY

dCas9-based Scn1a gene activation restores inhibitory interneuron excitability and attenuates seizures in Dravet syndrome mice

(2019) Gaia Colasante et al.   MOLECULAR THERAPY

Optogenetic and chemogenetic therapies for epilepsy

(2019) Matthew C. Walker et al.   NEUROPHARMACOLOGY

N-terminal alternative splicing of GluN1 regulates the maturation of excitatory synapses and seizure susceptibility

(2019) Hong Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dissecting the Genetics of Autism Spectrum Disorders: A Drosophila Perspective

(2019) Paola Bellosta et al.   Frontiers in Physiology

Search-and-replace genome editing without double-strand breaks or donor DNA

(2019) Andrew V. Anzalone et al.   NATURE

Delivering genes across the blood-brain barrier: LY6A, a novel cellular receptor for AAV-PHP.B capsids

(2019) Qin Huang et al.   PLoS One

Epilepsy and neuropsychiatric comorbidities in mice carrying a recurrent Dravet syndrome SCN1A missense mutation

(2019) Ana Ricobaraza et al.   Scientific Reports

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

(2019) Isabelle Léna et al.   Scientific Reports

Rodent genetic models of neurodevelopmental disorders and epilepsy

(2019) Alfredo Gonzalez-Sulser   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Epilepsy and developmental disorders: Next generation sequencing in the clinic

(2019) Joseph D. Symonds et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Sexually Divergent Mortality and Partial Phenotypic Rescue After Gene Therapy in a Mouse Model of Dravet Syndrome

(2019) Yosuke Niibori et al.   HUMAN GENE THERAPY

Organoid and Assembloid Technologies for Investigating Cellular Crosstalk in Human Brain Development and Disease

(2019) Rebecca M. Marton et al.   TRENDS IN CELL BIOLOGY

Long-Term Therapeutic Efficacy of Intravenous AAV-Mediated Hamartin Replacement in Mouse Model of Tuberous Sclerosis Type 1

(2019) Shilpa Prabhakar et al.   Molecular Therapy-Methods & Clinical Development

Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy

(2018) Jovana Kovačević et al.   BRAIN

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

(2018) Floriana Fruscione et al.   BRAIN

Differential effects on sodium current impairments by distinct SCN1A mutations in GABAergic neurons derived from Dravet syndrome patients

(2018) Hyun Woo Kim et al.   BRAIN & DEVELOPMENT

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene

(2018) X. Shawn Liu et al.   CELL

Behavioral and neuroanatomical approaches in models of neurodevelopmental disorders

(2018) Jill L. Silverman et al.   CURRENT OPINION IN NEUROLOGY

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations

(2018) Paolo Curatolo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus

(2018) Jacy L. Wagnon et al.   HUMAN MUTATION

Recent progress and considerations for AAV gene therapies targeting the central nervous system

(2018) Erik Allen Lykken et al.   Journal of Neurodevelopmental Disorders

Species-conserved SYNGAP1 phenotypes associated with neurodevelopmental disorders

(2018) Murat Kilinc et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome

(2018) Albert Orock et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

The Neurotropic Properties of AAV-PHP.B Are Limited to C57BL/6J Mice

(2018) Juliette Hordeaux et al.   MOLECULAR THERAPY

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

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

Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome

(2018) Jonathan W. Lovelace et al.   NEUROBIOLOGY OF DISEASE

Gene therapy and editing: Novel potential treatments for neuronal channelopathies

(2018) R.C. Wykes et al.   NEUROPHARMACOLOGY

Comprehensive behavioral analysis of the Cdkl5 knockout mice revealed significant enhancement in anxiety- and fear-related behaviors and impairment in both acquisition and long-term retention of spatial reference memory

(2018) Kosuke Okuda et al.   PLoS One

Enhanced Transmission at the Calyx of Held Synapse in a Mouse Model for Angelman Syndrome

(2018) Tiantian Wang et al.   Frontiers in Cellular Neuroscience

Disease-associated missense mutations in GluN2B subunit alter NMDA receptor ligand binding and ion channel properties

(2018) Laura Fedele et al.   Nature Communications

Of Men and Mice: Modeling the Fragile X Syndrome

(2018) Regina Dahlhaus   Frontiers in Molecular Neuroscience

Preclinical Animal Models for Dravet Syndrome: Seizure Phenotypes, Comorbidities and Drug Screening

(2018) Aliesha Griffin et al.   Frontiers in Pharmacology

A Rationally Engineered Capsid Variant of AAV9 for Systemic CNS-Directed and Peripheral Tissue-Detargeted Gene Delivery in Neonates

(2018) Dan Wang et al.   Molecular Therapy-Methods & Clinical Development

Nanoparticle delivery of CRISPR into the brain rescues a mouse model of fragile X syndrome from exaggerated repetitive behaviours

(2018) Bumwhee Lee et al.   Nature Biomedical Engineering

Molecular and Synaptic Bases of CDKL5 Disorder

(2018) Yong-Chuan Zhu et al.   Developmental Neurobiology

Neural progenitors derived from Tuberous Sclerosis Complex patients exhibit attenuated PI3K/AKT signaling and delayed neuronal differentiation

(2018) Avery J. Zucco et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Evolved Cas9 variants with broad PAM compatibility and high DNA specificity

(2018) Johnny H. Hu et al.   NATURE

Genetically engineered human cortical spheroid models of tuberous sclerosis

(2018) John D. Blair et al.   NATURE MEDICINE

Targeted Reactivation of FMR1 Transcription in Fragile X Syndrome Embryonic Stem Cells

(2018) Jill M. Haenfler et al.   Frontiers in Molecular Neuroscience

Human Models Are Needed for Studying Human Neurodevelopmental Disorders

(2018) Xinyu Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Prominent role of forebrain excitatory neurons in SCN8A encephalopathy

(2018) Rosie K A Bunton-Stasyshyn et al.   BRAIN

Hot water epilepsy and SYN1 variants

(2018) Angela Peron et al.   EPILEPSIA

Toxicity of overexpressed MeCP2 is independent of HDAC3 activity

(2018) Martha V. Koerner et al.   GENES & DEVELOPMENT

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice

(2018) Bin Gu et al.   JOURNAL OF CLINICAL INVESTIGATION

A Novel Mecp2Y120D Knock-in Model Displays Similar Behavioral Traits But Distinct Molecular Features Compared to the Mecp2-Null Mouse Implying Precision Medicine for the Treatment of Rett Syndrome

(2018) Anna Gandaglia et al.   MOLECULAR NEUROBIOLOGY

Towards an Understanding of Synapse Formation

(2018) Thomas C. Südhof   NEURON

Building Models of Brain Disorders with Three-Dimensional Organoids

(2018) Neal D. Amin et al.   NEURON

Deletion of KCNQ2/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission

(2018) Heun Soh et al.   eLife

UBE3A and Its Link With Autism

(2018) Naman Vatsa et al.   Frontiers in Molecular Neuroscience

Neuron-Glia Interactions Increase Neuronal Phenotypes in Tuberous Sclerosis Complex Patient iPSC-Derived Models

(2018) Aishwarya G. Nadadhur et al.   Stem Cell Reports

A Self-Deleting AAV-CRISPR System for In Vivo Genome Editing

(2018) Ang Li et al.   Molecular Therapy-Methods & Clinical Development

Dravet syndrome and its mimics: Beyond SCN1A

(2017) Dora Steel et al.   EPILEPSIA

Heat induced temperature dysregulation and seizures in Dravet Syndrome/GEFS+ Gabrg2+/Q390X mice

(2017) Timothy A. Warner et al.   EPILEPSY RESEARCH

STXBP1 as a therapeutic target for epileptic encephalopathy

(2017) Hannah Stamberger et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

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

(2017) Hiroyuki Miyamoto et al.   HUMAN MOLECULAR GENETICS

In vivo genome editing via the HITI method as a tool for gene therapy

(2017) Keiichiro Suzuki et al.   JOURNAL OF HUMAN GENETICS

Treatment of autosomal dominant hearing loss by in vivo delivery of genome editing agents

(2017) Xue Gao et al.   NATURE

Assembly of functionally integrated human forebrain spheroids

(2017) Fikri Birey et al.   NATURE

Programmable base editing of A•T to G•C in genomic DNA without DNA cleavage

(2017) Nicole M. Gaudelli et al.   NATURE

Biotin tagging of MeCP2 in mice reveals contextual insights into the Rett syndrome transcriptome

(2017) Brian S Johnson et al.   NATURE MEDICINE

Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems

(2017) Ken Y Chan et al.   NATURE NEUROSCIENCE

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations

(2017) Caterina Michetti et al.   NEUROBIOLOGY OF DISEASE

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

(2017) Kosuke Okuda et al.   NEUROBIOLOGY OF DISEASE

DNM1 encephalopathy

(2017) Sarah von Spiczak et al.   NEUROLOGY

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

(2017) Amy McTague et al.   NEUROLOGY

Profile of neonatal epilepsies

(2017) Renée A. Shellhaas et al.   NEUROLOGY

Virus-Mediated Genome Editing via Homology-Directed Repair in Mitotic and Postmitotic Cells in Mammalian Brain

(2017) Jun Nishiyama et al.   NEURON

RNA editing with CRISPR-Cas13

(2017) David B. T. Cox et al.   SCIENCE

The genomic landscape of tuberous sclerosis complex

(2017) Katie R. Martin et al.   Nature Communications

Mutations in Membrin/ GOSR2 Reveal Stringent Secretory Pathway Demands of Dendritic Growth and Synaptic Integrity

(2017) Roman Praschberger et al.   Cell Reports

Abnormal Neural Progenitor Cells Differentiated from Induced Pluripotent Stem Cells Partially Mimicked Development of TSC2 Neurological Abnormalities

(2017) Yaqin Li et al.   Stem Cell Reports

Hello from the Other Side: How Autoantibodies Circumvent the Blood–Brain Barrier in Autoimmune Encephalitis

(2017) Maryann P. Platt et al.   Frontiers in Immunology

Longitudinal course of epilepsy in Rett syndrome and related disorders

(2016) Daniel C. Tarquinio et al.   BRAIN

Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure

(2016) Xuyu Qian et al.   CELL

Induced Pluripotent Stem Cells Meet Genome Editing

(2016) Dirk Hockemeyer et al.   Cell Stem Cell

Epilepsy in youngTsc1+/−mice exhibits age-dependent expression that mimics that of human tuberous sclerosis complex

(2016) Svetlana Gataullina et al.   EPILEPSIA

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

(2016) Katherine B. Howell et al.   EPILEPSIA

FMRP Expression Levels in Mouse Central Nervous System Neurons Determine Behavioral Phenotype

(2016) Jason Arsenault et al.   HUMAN GENE THERAPY

Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome

(2016) Hiroshi Maeda et al.   JOURNAL OF HUMAN GENETICS

Fragile X mental retardation protein controls ion channel expression and activity

(2016) Laurent Ferron   JOURNAL OF PHYSIOLOGY-LONDON

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

A Self-restricted CRISPR System to Reduce Off-target Effects

(2016) Yanhao Chen et al.   MOLECULAR THERAPY

In vivo genome editing via CRISPR/Cas9 mediated homology-independent targeted integration

(2016) Keiichiro Suzuki et al.   NATURE

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage

(2016) Alexis C. Komor et al.   NATURE

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

(2016) Benjamin E Deverman et al.   NATURE BIOTECHNOLOGY

Complex transcriptional modulation with orthogonal and inducible dCas9 regulators

(2016) Yuchen Gao et al.   NATURE METHODS

Angelman syndrome — insights into a rare neurogenetic disorder

(2016) Karin Buiting et al.   Nature Reviews Neurology

Delineating the GRIN1 phenotypic spectrum

(2016) Johannes R. Lemke et al.   NEUROLOGY

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

Advances and Future Directions for Tuberous Sclerosis Complex Research: Recommendations From the 2015 Strategic Planning Conference

(2016) Mustafa Sahin et al.   PEDIATRIC NEUROLOGY

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

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

Mavoglurant in fragile X syndrome: Results of two randomized, double-blind, placebo-controlled trials

(2016) Elizabeth Berry-Kravis et al.   Science Translational Medicine

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function

(2016) Flavia Valtorta et al.   TRENDS IN NEUROSCIENCES

SYNGAP1: Mind the Gap

(2016) Nallathambi Jeyabalan et al.   Frontiers in Cellular Neuroscience

PRRT2 mutations lead to neuronal dysfunction and neurodevelopmental defects

(2016) Yo-Tsen Liu et al.   Oncotarget

mTORC1 Inhibition Corrects Neurodevelopmental and Synaptic Alterations in a Human Stem Cell Model of Tuberous Sclerosis

(2016) Veronica Costa et al.   Cell Reports

PRRT2 Is a Key Component of the Ca 2+ -Dependent Neurotransmitter Release Machinery

(2016) Pierluigi Valente et al.   Cell Reports

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

(2016) Yishan Sun et al.   eLife

CRISPR-Cas9 for in vivo Gene Therapy: Promise and Hurdles

(2016) Wei-Jing Dai et al.   Molecular Therapy-Nucleic Acids

Upregulation of Haploinsufficient Gene Expression in the Brain by Targeting a Long Non-coding RNA Improves Seizure Phenotype in a Model of Dravet Syndrome

(2016) J. Hsiao et al.   EBioMedicine

Reactivation of FMR1 by CRISPR/Cas9-Mediated Deletion of the Expanded CGG-Repeat of the Fragile X Chromosome

(2016) Nina Xie et al.   PLoS One

The Synaptic Vesicle Release Machinery

(2015) Josep Rizo et al.   Annual Review of Biophysics

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

FOXG1-Dependent Dysregulation of GABA/Glutamate Neuron Differentiation in Autism Spectrum Disorders

(2015) Jessica Mariani et al.   CELL

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

Adenovirus-Mediated Somatic Genome Editing ofPtenby CRISPR/Cas9 in Mouse Liver in Spite of Cas9-Specific Immune Responses

(2015) Dan Wang et al.   HUMAN GENE THERAPY

Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model

(2015) Sara Silva-Santos et al.   JOURNAL OF CLINICAL INVESTIGATION

Discovery and Functional Characterization of Diverse Class 2 CRISPR-Cas Systems

(2015) Sergey Shmakov et al.   MOLECULAR CELL

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

(2015) Harrison W. Gabel et al.   NATURE

Highly efficient Cas9-mediated transcriptional programming

(2015) Alejandro Chavez et al.   NATURE METHODS

Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture

(2015) Anca M Paşca et al.   NATURE METHODS

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration

(2015) Jing-Qiong Kang et al.   NATURE NEUROSCIENCE

Methods for the directed evolution of proteins

(2015) Michael S. Packer et al.   NATURE REVIEWS GENETICS

Dysregulation and restoration of translational homeostasis in fragile X syndrome

(2015) Joel D. Richter et al.   NATURE REVIEWS NEUROSCIENCE

Survival benefit and phenotypic improvement by hamartin gene therapy in a tuberous sclerosis mouse brain model

(2015) Shilpa Prabhakar et al.   NEUROBIOLOGY OF DISEASE

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Concise Review: Exciting Cells: Modeling Genetic Epilepsies with Patient-Derived Induced Pluripotent Stem Cells

(2015) Andrew M. Tidball et al.   STEM CELLS

Efficient CRISPR-Cas9-Mediated Generation of Knockin Human Pluripotent Stem Cells Lacking Undesired Mutations at the Targeted Locus

(2015) Florian T. Merkle et al.   Cell Reports

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

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

From UBE3A to Angelman syndrome: a substrate perspective

(2015) Gabrielle L. Sell et al.   Frontiers in Neuroscience

Off-target Effects in CRISPR/Cas9-mediated Genome Engineering

(2015) Xiao-Hui Zhang et al.   Molecular Therapy-Nucleic Acids

Asynchronous GABA Release Is a Key Determinant of Tonic Inhibition and Controls Neuronal Excitability: A Study in the Synapsin II−/−Mouse

(2014) Lucian Medrihan et al.   CEREBRAL CORTEX

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

(2014) Gabriella Livide et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Unusual variability of PRRT2 linked phenotypes within a family

(2014) Frieder Brueckner et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

(2014) Emily Cunningham Williams et al.   HUMAN MOLECULAR GENETICS

Towards a therapy for Angelman syndrome by targeting a long non-coding RNA

(2014) Linyan Meng et al.   NATURE

GUIDE-seq enables genome-wide profiling of off-target cleavage by CRISPR-Cas nucleases

(2014) Shengdar Q Tsai et al.   NATURE BIOTECHNOLOGY

Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice

(2014) Akshitkumar M. Mistry et al.   NEUROBIOLOGY OF DISEASE

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Reduced Cognition in Syngap1 Mutants Is Caused by Isolated Damage within Developing Forebrain Excitatory Neurons

(2014) Emin D. Ozkan et al.   NEURON

Reduced Phenotypic Severity Following Adeno-Associated Virus-Mediated Fmr1 Gene Delivery in Fragile X Mice

(2014) Shervin Gholizadeh et al.   NEUROPSYCHOPHARMACOLOGY

Mapping Pathological Phenotypes in a Mouse Model of CDKL5 Disorder

(2014) Elena Amendola et al.   PLoS One

Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

(2013) Yu Liu et al.   ANNALS OF NEUROLOGY

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

Repurposing CRISPR as an RNA-Guided Platform for Sequence-Specific Control of Gene Expression

(2013) Lei S. Qi et al.   CELL

Mapping genetic modifiers of survival in a mouse model of Dravet syndrome

(2013) A. R. Miller et al.   GENES BRAIN AND BEHAVIOR

SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

(2013) Anna Corradi et al.   HUMAN MOLECULAR GENETICS

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons

(2013) Jiao Jiao et al.   HUMAN MOLECULAR GENETICS

Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity

(2013) Gabriele Lignani et al.   HUMAN MOLECULAR GENETICS

Systemic Delivery of MeCP2 Rescues Behavioral and Cellular Deficits in Female Mouse Models of Rett Syndrome

(2013) S. K. Garg et al.   JOURNAL OF NEUROSCIENCE

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Cerebral organoids model human brain development and microcephaly

(2013) Madeline A. Lancaster et al.   NATURE

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

(2013) Johannes R Lemke et al.   NATURE GENETICS

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

(2013) Gemma L Carvill et al.   NATURE GENETICS

Rett syndrome mutations abolish the interaction of MeCP2 with the NCoR/SMRT co-repressor

(2013) Matthew J Lyst et al.   NATURE NEUROSCIENCE

A human Dravet syndrome model from patient induced pluripotent stem cells

(2013) Norimichi Higurashi et al.   Molecular Brain

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP

(2012) Krishna R. Veeramah et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autism-related behavioral abnormalities in synapsin knockout mice

(2012) Barbara Greco et al.   BEHAVIOURAL BRAIN RESEARCH

Pathogenic SYNGAP1 Mutations Impair Cognitive Development by Disrupting Maturation of Dendritic Spine Synapses

(2012) James P. Clement et al.   CELL

Synaptic and Extrasynaptic Origin of the Excitation/Inhibition Imbalance in the Hippocampus of Synapsin I/II/III Knockout Mice

(2012) P. Farisello et al.   CEREBRAL CORTEX

Synaptopathies: diseases of the synaptome

(2012) Seth GN Grant   CURRENT OPINION IN NEUROBIOLOGY

Preclinical research in Rett syndrome: setting the foundation for translational success

(2012) D. M. Katz et al.   Disease Models & Mechanisms

Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit

(2012) Fazal M. Arain et al.   EPILEPSIA

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Systemic delivery of scAAV9 in fetal macaques facilitates neuronal transduction of the central and peripheral nervous systems

(2012) C N Mattar et al.   GENE THERAPY

Directed evolution of novel adeno-associated viruses for therapeutic gene delivery

(2012) M A Bartel et al.   GENE THERAPY

GluN1 hypomorph mice exhibit wide-ranging behavioral alterations

(2012) C. Barkus et al.   GENES BRAIN AND BEHAVIOR

Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a

(2012) Linyan Meng et al.   HUMAN MOLECULAR GENETICS

Signaling defects in iPSC-derived fragile X premutation neurons

(2012) Jing Liu et al.   HUMAN MOLECULAR GENETICS

Improved Survival and Reduced Phenotypic Severity Following AAV9/MECP2 Gene Transfer to Neonatal and Juvenile Male Mecp2 Knockout Mice

(2012) Kamal KE Gadalla et al.   MOLECULAR THERAPY

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

(2012) Sarah E Heron et al.   NATURE GENETICS

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Dynamin, a membrane-remodelling GTPase

(2012) Shawn M. Ferguson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome

(2012) F. McLeod et al.   NEUROSCIENCE

Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice

(2012) I.-T. J. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Intravenous administration of AAV2/9 to the fetal and neonatal mouse leads to differential targeting of CNS cell types and extensive transduction of the nervous system

(2011) Ahad A. Rahim et al.   FASEB JOURNAL

SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

(2011) Anna Fassio et al.   HUMAN MOLECULAR GENETICS

Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

(2011) Aaron Y.L. Cheung et al.   HUMAN MOLECULAR GENETICS

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

(2011) Darren Goffin et al.   NATURE NEUROSCIENCE

Isogenic Pairs of Wild Type and Mutant Induced Pluripotent Stem Cell (iPSC) Lines from Rett Syndrome Patients as In Vitro Disease Model

(2011) Gene Ananiev et al.   PLoS One

Adeno-Associated Virus-Mediated Rescue of the Cognitive Defects in a Mouse Model for Angelman Syndrome

(2011) Jennifer L. Daily et al.   PLoS One

Toward Fulfilling the Promise of Molecular Medicine in Fragile X Syndrome

(2010) Dilja D. Krueger et al.   Annual Review of Medicine

Neurological Channelopathies

(2010) Dimitri M. Kullmann   Annual Review of Neuroscience

A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

(2010) Maria C.N. Marchetto et al.   CELL

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State

(2010) Peter J. Skene et al.   MOLECULAR CELL

Characterization of the proteome, diseases and evolution of the human postsynaptic density

(2010) Àlex Bayés et al.   NATURE NEUROSCIENCE

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Glutamate Receptor Ion Channels: Structure, Regulation, and Function

(2010) S. F. Traynelis et al.   PHARMACOLOGICAL REVIEWS

The synapsins: Key actors of synapse function and plasticity

(2010) F. Cesca et al.   PROGRESS IN NEUROBIOLOGY

A Missense Mutation in a Highly Conserved Alternate Exon of Dynamin-1 Causes Epilepsy in Fitful Mice

(2010) Rebecca M. Boumil et al.   PLoS Genetics

Fragile X mental retardation protein replacement restores hippocampal synaptic function in a mouse model of fragile X syndrome

(2009) Z Zeier et al.   GENE THERAPY

AAV9: a potential blood-brain barrier buster

(2009) Fredric P Manfredsson et al.   MOLECULAR THERAPY

Origins of Epilepsy in Fragile X Syndrome

(2009) Paul J. Hagerman et al.   Epilepsy Currents

Opposite Changes in Glutamatergic and GABAergic Transmission Underlie the Diffuse Hyperexcitability of Synapsin I–Deficient Cortical Networks

(2008) Michela Chiappalone et al.   CEREBRAL CORTEX

Targeted delivery of an Mecp2 transgene to forebrain neurons improves the behavior of female Mecp2-deficient mice

(2008) D. G.M. Jugloff et al.   HUMAN MOLECULAR GENETICS

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

(2008) Judith R. Brouwer et al.   JOURNAL OF NEUROCHEMISTRY

Mouse models of humanKCNQ2andKCNQ3mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization

(2008) Nanda A. Singh et al.   JOURNAL OF PHYSIOLOGY-LONDON

Tuberous sclerosis

(2008) Paolo Curatolo et al.   LANCET

High-efficiency Transduction of the Mouse Retina by Tyrosine-mutant AAV Serotype Vectors

(2008) Hilda Petrs-Silva et al.   MOLECULAR THERAPY

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

(2008) Dan Ehninger et al.   NATURE MEDICINE