(Q37827176)

23 August 2017

Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies (English)

1 reference

23 August 2017

1 reference

David A Greenberg

1

1 reference

PMCID

3021750

23 August 2017

Ryan Subaran

series ordinal

2

1 reference

23 August 2017

1 January 2011

1 reference

23 August 2017

1 reference

23 August 2017

52

1 reference

23 August 2017

1-9

1 reference

23 August 2017

1

1 reference

Hippocampal interictal spikes disrupt cognition in rats

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

MR connectomics: Principles and challenges

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Recommendation for a definition of acute symptomatic seizure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epileptogenesis in the immature brain: emerging mechanisms

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

The mammalian target of rapamycin signaling pathway mediates epileptogenesis in a model of temporal lobe epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Schizophrenia and epilepsy: is there a shared susceptibility?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epilepsy and cognitive impairments in Alzheimer disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

High-frequency oscillations: what is normal and what is not?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Recent advances in neurobiology of Tuberous Sclerosis Complex.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Psychiatric comorbidities in epilepsy.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

From synapse to nucleus: calcium-dependent gene transcription in the control of synapse development and function

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Early alterations of AMPA receptors mediate synaptic potentiation induced by neonatal seizures

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Mapping the structural core of human cerebral cortex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epilepsy: being ill in more ways than one.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Aberrant excitatory neuronal activity and compensatory remodeling of inhibitory hippocampal circuits in mouse models of Alzheimer's disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Autistic spectrum disorder: evaluating a possible contributing or causal role of epilepsy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Regulation of neuronal morphology and function by the tumor suppressors Tsc1 and Tsc2

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Human EEG gamma oscillations in neuropsychiatric disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

The human connectome: A structural description of the human brain

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Infantile spasms and intellectual outcomes in children with tuberous sclerosis complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

6 September 2017

The genetics of autism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epileptic encephalopathies: a brief overview

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Neurobiology of Rett syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epileptic syndromes in childhood: clinical features, outcomes, and treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Atypical antipsychotics and serotoninergic antidepressants in patients with epilepsy: pharmacodynamic considerations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Psychiatric morbidity in epilepsy: a case controlled study of adults receiving disability benefits

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Differential reelin-induced enhancement of NMDA and AMPA receptor activity in the adult hippocampus.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Regulation of circuits and excitability: implications for epileptogenesis

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Epilepsy and EEG paroxysmal abnormalities in autism spectrum disorders.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Psychiatric comorbidity in patients with epilepsy: a population-based study

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Rapid plasticity at inhibitory and excitatory synapses in the hippocampus induced by ictal epileptiform discharges

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Incidence of epilepsy and unprovoked seizures in Rochester, Minnesota: 1935-1984.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3021750

Mechanisms of seizures and coma in hypoglycemia. Evidence for a direct effect of insulin on electrolyte transport in brain

1 September 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Astrocytes within multiple sclerosis lesions upregulate sodium channel Nav1.5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Autosomal dominant glut-1 deficiency syndrome and familial epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Elongator controls the migration and differentiation of cortical neurons through acetylation of alpha-tubulin

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Metabolic approach of absence seizures in a genetic model of absence epilepsy, the GAERS: study of the leucine-glutamate cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8-and genetic heterogeneity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Myoclonus epilepsy associated with ragged-red fibres (mitochondrial abnormalities ): disease entity or a syndrome? Light-and electron-microscopic studies of two cases and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

There is more than one way to collect data for linkage analysis. What a study of epilepsy can tell us about linkage strategy for psychiatric disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Reproducibility and complications in gene searches: linkage on chromosome 6, heterogeneity, association, and maternal inheritance in juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Compensatory increase in P/Q-calcium current-mediated synaptic transmission following chronic block of N-type channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Compensatory regulation of Cav2.1 Ca2+ channels in cerebellar Purkinje neurons lacking parvalbumin and calbindin D-28k

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Association of BRD2 polymorphisms with photoparoxysmal response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Finding the missing heritability of complex diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Genetic heterogeneity in human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

The future of genetic studies of complex human diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

The emperor's new methods

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Metabolic environment in substantia nigra reticulata is critical for the expression and control of hypoglycemia-induced seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

Ketogenic diet, amino acid metabolism, and seizure control

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

A Multicenter Study of BRD2 as a Risk Factor for Juvenile Myoclonic Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2010.02734.X

10.1111/J.1528-1167.2010.02734.X

21 January 2018

Identifiers

DOI

1 reference

23 August 2017

1 reference

23 August 2017

1 reference

PMCID

3021750