Models for discovery of targeted therapy in genetic epileptic encephalopathies (Q39457643)

12 September 2017

title

Models for discovery of targeted therapy in genetic epileptic encephalopathies (English)

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12 September 2017

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6 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742937%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

Steven Petrou

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6 June 2020

language of work or name

English

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publication date

25 July 2017

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Journal of Neurochemistry

12 September 2017

published in

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6 June 2020

volume

143

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issue

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page(s)

30-48

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Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency - molecular profiling and functional rescue

6 June 2020

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De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

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Nanobodies and their potential applications

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Grafting of striatal precursor cells into hippocampus shortly after status epilepticus restrains chronic temporal lobe epilepsy.

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Impaired action potential initiation in GABAergic interneurons causes hyperexcitable networks in an epileptic mouse model carrying a human Na(V)1.1 mutation

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Sodium-channel defects in benign familial neonatal-infantile seizures

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A human Dravet syndrome model from patient induced pluripotent stem cells

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Simultaneous Reprogramming and Gene Correction of Patient Fibroblasts

21 January 2018

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SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures

21 January 2018

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

21 January 2018

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Niche-dependent development of functional neuronal networks from embryonic stem cell-derived neural populations

21 January 2018

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Modeling human neurological disorders with induced pluripotent stem cells

21 January 2018

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Epileptic encephalopathy de novo GABRB mutations impair GABAA receptor function

21 January 2018

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

21 January 2018

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Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

21 January 2018

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Systems genetics identifies Sestrin 3 as a regulator of a proconvulsant gene network in human epileptic hippocampus

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A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

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Animal models of epilepsy: use and limitations.

21 January 2018

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Molecular Pathogenic Basis for GABRG2 Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

21 January 2018

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A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities

21 January 2018

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What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy

21 January 2018

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Optimizing neuronal differentiation from induced pluripotent stem cells to model ASD

21 January 2018

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Cerebral organoids model human brain development and microcephaly

21 January 2018

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The phenotypic spectrum of SCN8A encephalopathy

21 January 2018

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

21 January 2018

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GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy

21 January 2018

1 reference

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

21 January 2018

1 reference

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

21 January 2018

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SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

21 January 2018

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

21 January 2018

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KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.

21 January 2018

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Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism

21 January 2018

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CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation

21 January 2018

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Role of the hippocampus in Nav1.6 (Scn8a) mediated seizure resistance

21 January 2018

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Potassium channel genes and benign familial neonatal epilepsy

21 January 2018

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A sodium-activated potassium channel supports high-frequency firing and reduces energetic costs during rapid modulations of action potential amplitude

21 January 2018

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Directed differentiation and functional maturation of cortical interneurons from human embryonic stem cells

21 January 2018

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The genetic landscape of the epileptic encephalopathies of infancy and childhood.

21 January 2018

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Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits.

21 January 2018

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A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

21 January 2018

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Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

21 January 2018

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Quinidine in the treatment of KCNT1-positive epilepsies

21 January 2018

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KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

21 January 2018

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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

21 January 2018

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Shining Light on the Sprout of Life: Optogenetics Applications in Stem Cell Research and Therapy

21 January 2018

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Mutations in KCNT1 cause a spectrum of focal epilepsies.

21 January 2018

1 reference

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

21 January 2018

1 reference

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

1 reference

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

21 January 2018

1 reference

Functional maturation of hPSC-derived forebrain interneurons requires an extended timeline and mimics human neural development.

21 January 2018

1 reference

Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons

21 January 2018

1 reference

Clinical review of genetic epileptic encephalopathies

21 January 2018

1 reference

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 January 2018

1 reference

A homozygous mutation of voltage-gated sodium channel β(I) gene SCN1B in a patient with Dravet syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

Sodium channels and the neurobiology of epilepsy

21 January 2018

1 reference

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

21 January 2018

1 reference

Selective spider toxins reveal a role for the Nav1.1 channel in mechanical pain

21 January 2018

1 reference

Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions

21 January 2018

1 reference

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy.

21 January 2018

1 reference

Reprogramming patient-derived cells to study the epilepsies

21 January 2018

1 reference

Conditional transgenic suppression of M channels in mouse brain reveals functions in neuronal excitability, resonance and behavior.

21 January 2018

1 reference

A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy

21 January 2018

1 reference

GABA(A) receptors: immunocytochemical distribution of 13 subunits in the adult rat brain.

21 January 2018

1 reference

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

21 January 2018

1 reference

The promises and challenges of human brain organoids as models of neuropsychiatric disease

21 January 2018

1 reference

Cell diversity and network dynamics in photosensitive human brain organoids.

21 January 2018

1 reference

A Comparative View on Human Somatic Cell Sources for iPSC Generation

21 January 2018

1 reference

Confirming the recessive inheritance of SCN1B mutations in developmental epileptic encephalopathy.

21 January 2018

1 reference

Contemplating stem cell therapy for epilepsy-induced neuropsychiatric symptoms

21 January 2018

1 reference

Mechanisms of human inherited epilepsies

21 January 2018

1 reference

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

21 January 2018

1 reference

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

21 January 2018

1 reference

Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy

21 January 2018

1 reference

The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary-cells tranfected with human KCNQ2/3 subunits

21 January 2018

1 reference

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

1 reference

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

21 January 2018

1 reference

Ketogenic diet for epilepsy treatment

21 January 2018

1 reference

The relevance of individual genetic background and its role in animal models of epilepsy

21 January 2018

1 reference

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

21 January 2018

1 reference

Development of dissociated cryopreserved rat cortical neurons in vitro.

21 January 2018

1 reference

Can we predict a favourable response to Ketogenic Diet Therapies for drug-resistant epilepsy?

21 January 2018

1 reference

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

21 January 2018

1 reference

The Expanding Clinical Spectrum of Genetic Pediatric Epileptic Encephalopathies.

21 January 2018

1 reference

De novo GABRG2 mutations associated with epileptic encephalopathies.

21 January 2018

1 reference

GABA-ergic cell therapy for epilepsy: Advances, limitations and challenges.

21 January 2018

1 reference

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

21 January 2018

1 reference

Structure and subunit composition of GABA(A) receptors.

21 January 2018

1 reference

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

1 reference

Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.

21 January 2018

1 reference

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

21 January 2018

1 reference

Efficient genome editing in the mouse brain by local delivery of engineered Cas9 ribonucleoprotein complexes.

21 January 2018

1 reference

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

21 January 2018

1 reference

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

1 reference

Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy

21 January 2018

1 reference

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization

21 January 2018

1 reference

CaMKII modulates sodium current in neurons from epileptic Scn2a mutant mice

21 January 2018

1 reference

De novo KCNB1 mutations in epileptic encephalopathy

21 January 2018

1 reference

Neural Stem Cell or Human Induced Pluripotent Stem Cell-Derived GABA-ergic Progenitor Cell Grafting in an Animal Model of Chronic Temporal Lobe Epilepsy.

21 January 2018

1 reference

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

21 January 2018

1 reference

Convulsive seizures and SUDEP in a mouse model of SCN8A epileptic encephalopathy

21 January 2018

1 reference

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 January 2018

1 reference

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

De novo genic mutations among a Chinese autism spectrum disorder cohort.

21 January 2018

1 reference

Differential molecular and behavioural alterations in mouse models of GABRG2 haploinsufficiency versus dominant negative mutations associated with human epilepsy

21 January 2018

1 reference

Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

21 January 2018

1 reference

Treatment of Dravet Syndrome

21 January 2018

1 reference

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

21 January 2018

1 reference

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy.

21 January 2018

1 reference

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

1 reference

Rapid single-step induction of functional neurons from human pluripotent stem cells

21 January 2018

1 reference

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

21 January 2018

1 reference

Muscarinic suppression of a novel voltage-sensitive K+ current in a vertebrate neurone

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/JNC.14134

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742937%20AND%20SRC:MED&resulttype=core&format=json

6 June 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28742937%20AND%20SRC:MED&resulttype=core&format=json