Models for discovery of targeted therapy in genetic epileptic encephalopathies
Published 2017 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Models for discovery of targeted therapy in genetic epileptic encephalopathies
Authors
Keywords
-
Journal
JOURNAL OF NEUROCHEMISTRY
Volume 143, Issue 1, Pages 30-48
Publisher
Wiley
Online
2017-07-26
DOI
10.1111/jnc.14134
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology
- (2017) Ingrid E. Scheffer et al. EPILEPSIA
- Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy
- (2017) Massimiliano Rossi et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Cell diversity and network dynamics in photosensitive human brain organoids
- (2017) Giorgia Quadrato et al. NATURE
- Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes
- (2017) Brett T Staahl et al. NATURE BIOTECHNOLOGY
- Mutations in GABRB3
- (2017) Rikke S. Møller et al. NEUROLOGY
- The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy
- (2017) Constantin d’Ydewalle et al. NEURON
- Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome
- (2017) Orrin Devinsky et al. NEW ENGLAND JOURNAL OF MEDICINE
- CaMKII modulates sodium current in neurons from epilepticScn2amutant mice
- (2017) Christopher H. Thompson et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- In Utero Electroporation Approaches to Study the Excitability of Neuronal Subpopulations and Single-cell Connectivity
- (2017) Carlos G. Briz et al. Jove-Journal of Visualized Experiments
- Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue
- (2017) L. Addis et al. Scientific Reports
- De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies
- (2016) Candace T. Myers et al. AMERICAN JOURNAL OF HUMAN GENETICS
- GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers
- (2016) Dong Li et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Further evidence forGRIN2Bmutation as the cause of severe epileptic encephalopathy
- (2016) Robert Smigiel et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- BiallelicCACNA1Amutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy
- (2016) Karit Reinson et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Ineffective quinidine therapy in early onset epileptic encephalopathy withKCNT1mutation
- (2016) Pin Fee Chong et al. ANNALS OF NEUROLOGY
- Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation
- (2016) Elena Gardella et al. ANNALS OF NEUROLOGY
- Epileptic encephalopathy de novoGABRBmutations impair γ-aminobutyric acid type A receptor function
- (2016) Vaishali S. Janve et al. ANNALS OF NEUROLOGY
- Ketogenic diet for epilepsy treatment
- (2016) Letícia Pereira de Brito Sampaio ARQUIVOS DE NEURO-PSIQUIATRIA
- De novo GABRG2mutations associated with epileptic encephalopathies
- (2016) Dingding Shen et al. BRAIN
- Treatment of Dravet Syndrome
- (2016) Elaine C. Wirrell CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
- Brain-Region-Specific Organoids Using Mini-bioreactors for Modeling ZIKV Exposure
- (2016) Xuyu Qian et al. CELL
- Cacna1gis a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channelScn2a
- (2016) Jeffrey D. Calhoun et al. EPILEPSIA
- Differential molecular and behavioural alterations in mouse models ofGABRG2haploinsufficiency versus dominant negative mutations associated with human epilepsy
- (2016) Timothy A. Warner et al. HUMAN MOLECULAR GENETICS
- KCNT1mutations in seizure disorders: the phenotypic spectrum and functional effects
- (2016) Chiao Xin Lim et al. JOURNAL OF MEDICAL GENETICS
- Genetic and neurodevelopmental spectrum ofSYNGAP1-associated intellectual disability and epilepsy
- (2016) Cyril Mignot et al. JOURNAL OF MEDICAL GENETICS
- Shining Light on the Sprout of Life: Optogenetics Applications in Stem Cell Research and Therapy
- (2016) Hadi Mirzapour Delavar et al. JOURNAL OF MEMBRANE BIOLOGY
- Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons
- (2016) Zachary Niday et al. JOURNAL OF NEUROSCIENCE
- The genetic landscape of the epileptic encephalopathies of infancy and childhood
- (2016) Amy McTague et al. LANCET NEUROLOGY
- Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial
- (2016) Orrin Devinsky et al. LANCET NEUROLOGY
- Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain
- (2016) Jeremiah D. Osteen et al. NATURE
- The promises and challenges of human brain organoids as models of neuropsychiatric disease
- (2016) Giorgia Quadrato et al. NATURE MEDICINE
- Delineating the GRIN1 phenotypic spectrum
- (2016) Johannes R. Lemke et al. NEUROLOGY
- Phenotypic spectrum of GABRA1
- (2016) Katrine Johannesen et al. NEUROLOGY
- GABA-ergic cell therapy for epilepsy: Advances, limitations and challenges
- (2016) Ashok K. Shetty et al. NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
- Mutation screening of SCN2A in schizophrenia and identification of a novel loss-of-function mutation
- (2016) Liam S. Carroll et al. PSYCHIATRIC GENETICS
- Nanobodies that block gating of the P2X7 ion channel ameliorate inflammation
- (2016) W. Danquah et al. Science Translational Medicine
- Antibody Approaches To Treat Brain Diseases
- (2016) Vera Neves et al. TRENDS IN BIOTECHNOLOGY
- The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies
- (2016) Rolla Shbarou et al. Seminars in Pediatric Neurology
- De novo genic mutations among a Chinese autism spectrum disorder cohort
- (2016) Tianyun Wang et al. Nature Communications
- A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients
- (2016) Yishan Sun et al. eLife
- Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome
- (2016) Jing-Qiong Kang et al. JAMA Neurology
- CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation
- (2016) J Liu et al. Translational Psychiatry
- 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
- Quinidine in the treatment of KCNT1-positive epilepsies
- (2015) Mohamad A Mikati et al. ANNALS OF NEUROLOGY
- GABRB3mutations: a new and emerging cause of early infantile epileptic encephalopathy
- (2015) Apostolos Papandreou et al. DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
- Mutations inKCNT1cause a spectrum of focal epilepsies
- (2015) Rikke S. Møller et al. EPILEPSIA
- CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms
- (2015) Lena Damaj et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A novel epileptic encephalopathy mutation inKCNB1disrupts Kv2.1 ion selectivity, expression, and localization
- (2015) Isabelle Thiffault et al. JOURNAL OF GENERAL PHYSIOLOGY
- De novo gain-of-function and loss-of-function mutations ofSCN8Ain patients with intellectual disabilities and epilepsy
- (2015) Maxime G Blanchard et al. JOURNAL OF MEDICAL GENETICS
- Early-Onset Epileptic Encephalopathy Caused by Gain-of-Function Mutations in the Voltage Sensor of Kv7.2 and Kv7.3 Potassium Channel Subunits
- (2015) F. Miceli et al. JOURNAL OF NEUROSCIENCE
- De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
- (2015) Steffen Syrbe et al. NATURE GENETICS
- Reprogramming patient-derived cells to study the epilepsies
- (2015) Jack M Parent et al. NATURE NEUROSCIENCE
- The phenotypic spectrum of SCN8A encephalopathy
- (2015) J. Larsen et al. NEUROLOGY
- SCN2Aencephalopathy
- (2015) Katherine B. Howell et al. NEUROLOGY
- Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach
- (2015) Ragna S. Boerma et al. Neurotherapeutics
- Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus
- (2015) Michael R. Johnson et al. Nature Communications
- De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
- (2015) Hirotomo Saitsu et al. Scientific Reports
- Ontogeny of biochemical, morphological and functional parameters of synaptogenesis in primary cultures of rat hippocampal and cortical neurons
- (2015) Joshua A Harrill et al. Molecular Brain
- Simultaneous Reprogramming and Gene Correction of Patient Fibroblasts
- (2015) Sara E. Howden et al. Stem Cell Reports
- De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
- (2014) Silke Appenzeller et al. AMERICAN JOURNAL OF HUMAN GENETICS
- KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine
- (2014) Carol J. Milligan et al. ANNALS OF NEUROLOGY
- De novoKCNB1mutations in epileptic encephalopathy
- (2014) Ali Torkamani et al. ANNALS OF NEUROLOGY
- hPSC-Derived Maturing GABAergic Interneurons Ameliorate Seizures and Abnormal Behavior in Epileptic Mice
- (2014) Miles Cunningham et al. Cell Stem Cell
- A novelKCNQ3mutation in familial epilepsy with focal seizures and intellectual disability
- (2014) Francesco Miceli et al. EPILEPSIA
- Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders
- (2014) Orrin Devinsky et al. EPILEPSIA
- Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy
- (2014) Jacy L. Wagnon et al. HUMAN MOLECULAR GENETICS
- Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance
- (2014) Kinga Duszyc et al. JOURNAL OF APPLIED GENETICS
- Impaired Action Potential Initiation in GABAergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human NaV1.1 Mutation
- (2014) U. B. S. Hedrich et al. JOURNAL OF NEUROSCIENCE
- Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes
- (2014) Julian Schubert et al. NATURE GENETICS
- De novo mutations in HCN1 cause early infantile epileptic encephalopathy
- (2014) Caroline Nava et al. NATURE GENETICS
- Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance
- (2014) Christopher D. Makinson et al. NEUROBIOLOGY OF DISEASE
- GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome
- (2014) G. L. Carvill et al. NEUROLOGY
- Genetic Epilepsy Syndromes Without Structural Brain Abnormalities: Clinical Features and Experimental Models
- (2014) Renzo Guerrini et al. Neurotherapeutics
- Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD
- (2014) Dae-Sung Kim et al. Frontiers in Cellular Neuroscience
- A Comparative View on Human Somatic Cell Sources for iPSC Generation
- (2014) Stefanie Raab et al. Stem Cells International
- De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome
- (2013) Arvid Suls et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism
- (2013) Yu Liu et al. ANNALS OF NEUROLOGY
- GRIN2Bmutations in west syndrome and intellectual disability with focal epilepsy
- (2013) Johannes R. Lemke et al. ANNALS OF NEUROLOGY
- Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy
- (2013) Gökce Orhan et al. ANNALS OF NEUROLOGY
- Directed Differentiation and Functional Maturation of Cortical Interneurons from Human Embryonic Stem Cells
- (2013) Asif M. Maroof et al. Cell Stem Cell
- Functional Maturation of hPSC-Derived Forebrain Interneurons Requires an Extended Timeline and Mimics Human Neural Development
- (2013) Cory R. Nicholas et al. Cell Stem Cell
- Correlations in timing of sodium channel expression, epilepsy, and sudden death in Dravet syndrome
- (2013) Christine S Cheah et al. Channels
- Can we predict a favourable response to Ketogenic Diet Therapies for drug-resistant epilepsy?
- (2013) Natasha E. Schoeler et al. EPILEPSY RESEARCH
- 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
- Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons
- (2013) Jiao Jiao et al. HUMAN MOLECULAR GENETICS
- Early infantile epileptic encephalopathy associated with a high voltage gated calcium channelopathy
- (2013) Simon Edvardson et al. JOURNAL OF MEDICAL GENETICS
- Modeling human neurological disorders with induced pluripotent stem cells
- (2013) Yoichi Imaizumi et al. JOURNAL OF NEUROCHEMISTRY
- A sodium-activated potassium channel supports high-frequency firing and reduces energetic costs during rapid modulations of action potential amplitude
- (2013) Michael R. Markham et al. JOURNAL OF NEUROPHYSIOLOGY
- Nanobodies and their potential applications
- (2013) Gholamreza Hassanzadeh-Ghassabeh et al. Nanomedicine
- 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
- Multiple molecular mechanisms for a single GABAA mutation in epilepsy
- (2013) C. A. Reid et al. NEUROLOGY
- Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
- (2013) K. Nakamura et al. NEUROLOGY
- Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients
- (2013) S. Weckhuysen et al. NEUROLOGY
- Rapid Single-Step Induction of Functional Neurons from Human Pluripotent Stem Cells
- (2013) Yingsha Zhang et al. NEURON
- A Novel Null Homozygous Mutation Confirms CACNA2D2 as a Gene Mutated in Epileptic Encephalopathy
- (2013) Tommaso Pippucci et al. PLoS One
- ZFN, TALEN, and CRISPR/Cas-based methods for genome engineering
- (2013) Thomas Gaj et al. TRENDS IN BIOTECHNOLOGY
- 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
- Sodium channels and the neurobiology of epilepsy
- (2012) Megan Oliva et al. EPILEPSIA
- A homozygous mutation of voltage-gated sodium channel βIgeneSCN1Bin a patient with Dravet syndrome
- (2012) Ikuo Ogiwara et al. EPILEPSIA
- Clinical review of genetic epileptic encephalopathies
- (2012) Grace J. Noh et al. European Journal of Medical Genetics
- Development of dissociated cryopreserved rat cortical neurons in vitro
- (2012) Sarah C. Schock et al. JOURNAL OF NEUROSCIENCE METHODS
- 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
- What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy
- (2012) Charlotte Kilstrup-Nielsen et al. NEURAL PLASTICITY
- KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy
- (2011) Sarah Weckhuysen et al. ANNALS OF NEUROLOGY
- The relevance of individual genetic background and its role in animal models of epilepsy
- (2011) P. Elyse Schauwecker EPILEPSY RESEARCH
- Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy
- (2010) Yunxiang Liao et al. BRAIN
- Sodium channel SCN1A and epilepsy: Mutations and mechanisms
- (2010) Andrew Escayg et al. EPILEPSIA
- SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain
- (2010) Y. Liao et al. NEUROLOGY
- Niche-dependent development of functional neuronal networks from embryonic stem cell-derived neural populations.
- (2009) Sebastian Illes et al. BMC NEUROSCIENCE
- Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome
- (2009) Xiuyu Shi et al. BRAIN & DEVELOPMENT
- Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of humanKCNQ2andKCNQ3mutations for benign familial neonatal convulsions
- (2009) James F. Otto et al. EPILEPSIA
- Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling
- (2009) Stuart M Chambers et al. NATURE BIOTECHNOLOGY
- Grafting of striatal precursor cells into hippocampus shortly after status epilepticus restrains chronic temporal lobe epilepsy
- (2008) Bharathi Hattiangady et al. EXPERIMENTAL NEUROLOGY
- 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
- De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
- (2008) Hirotomo Saitsu et al. NATURE GENETICS
- X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment
- (2008) Leanne M Dibbens et al. NATURE GENETICS
- Mechanisms of human inherited epilepsies
- (2008) Christopher A. Reid et al. PROGRESS IN NEUROBIOLOGY
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started