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The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

Human mutation, 2013-09, Vol.34 (9), p.1200-1207

2013

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Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

EMBO reports, 2014-07, Vol.15 (7), p.766-774

2014

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The prefrontal cortex shows widespread decrease in H3 histamine receptor binding densities in rats with genetic generalized epilepsies

Epilepsy research, 2022-05, Vol.182, p.106921-106921, Article 106921

2022

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Cortical morphometric vulnerability to generalised epilepsy reflects chromosome‐ and cell type‐specific transcriptomic signatures

Neuropathology and applied neurobiology, 2023-02, Vol.49 (1), p.e12857-n/a

2023

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Discovery of a Potent, Selective T‑type Calcium Channel Blocker as a Drug Candidate for the Treatment of Generalized Epilepsies

Journal of medicinal chemistry, 2017-12, Vol.60 (23), p.9769-9789

2017

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Seven‐tesla quantitative magnetic resonance spectroscopy of glutamate, γ‐aminobutyric acid, and glutathione in the posterior cingulate cortex/precuneus in patients with epilepsy

Epilepsia (Copenhagen), 2020-12, Vol.61 (12), p.2785-2794

2020

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Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

Epilepsy research, 2017-11, Vol.137, p.9-18

Kang, Jing-Qiong

2017

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Epileptic networks studied with EEG‐fMRI

Epilepsia (Copenhagen), 2008-01, Vol.49 (s3), p.42-51

Gotman, Jean

2008

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Classical neurotransmitters and neuropeptides involved in generalized epilepsy in a multi-neurotransmitter system: How to improve the antiepileptic effect?

Epilepsy & behavior, 2017-06, Vol.71 (Pt B), p.124-129

2017

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Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy

European journal of nuclear medicine and molecular imaging, 2019-02, Vol.46 (2), p.385-395

2019

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Distinguishing patients with idiopathic epilepsy from solitary cysticercus granuloma epilepsy and biochemical phenotype assessment using a serum biomolecule profiling platform

PloS one, 2020-08, Vol.15 (8), p.e0237064-e0237064

2020

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NIRS‐measured oxy‐ and deoxyhemoglobin changes associated with EEG spike‐and‐wave discharges in children

Epilepsia (Copenhagen), 2008-11, Vol.49 (11), p.1871-1880

2008

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Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

PloS one, 2019-02, Vol.14 (2), p.e0211917-e0211917

2019

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SV2A protein is a broad-spectrum anticonvulsant target: Functional correlation between protein binding and seizure protection in models of both partial and generalized epilepsy

Neuropharmacology, 2008-03, Vol.54 (4), p.715-720

2008

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Investigation of glutamine and GABA levels in patients with idiopathic generalized epilepsy using MEGAPRESS

Journal of magnetic resonance imaging, 2015-03, Vol.41 (3), p.694-699

2015

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Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

Seizure (London, England), 2015-04, Vol.27, p.1-5

2015

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Atherosclerotic Effects of Long-Term Old and New Antiepileptic Drugs Monotherapy: A Cross-Sectional Comparative Study

Journal of child neurology, 2015-03, Vol.30 (4), p.451-457

2015

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

Brain & development (Tokyo. 1979), 2009-05, Vol.31 (5), p.394-400

2009

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Reduced axonal surface expression and phosphoinositide sensitivity in K v 7 channels disrupts their function to inhibit neuronal excitability in Kcnq2 epileptic encephalopathy

Neurobiology of disease, 2018-10, Vol.118, p.76-93

2018

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Alterations in the α 2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Epilepsia (Copenhagen), 2017-11, Vol.58 (11), p.1993-2001

2017

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Investigation of the cingulate cortex in idiopathic generalized epilepsy

Epilepsia (Copenhagen), 2015-11, Vol.56 (11), p.1803-1811

2015

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H1 histamine receptor densities are increased in brain regions of rats with genetically generalized epilepsies

Epilepsy research, 2016-11, Vol.127, p.135-140

2016

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Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion—Semicurve findings in adult patients

Epilepsy & behavior, 2016-08, Vol.61, p.132-137

2016

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Classical neurotransmitters and neuropeptides involved in generalized epilepsy: a focus on antiepileptic drugs

Current medicinal chemistry, 2011-11, Vol.18 (32), p.4933-4948

2011

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mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies

Epilepsia (Copenhagen), 2012-12, Vol.53 (s9), p.59-70

2012

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The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy

The prefrontal cortex shows widespread decrease in H3 histamine receptor binding densities in rats with genetic generalized epilepsies

Cortical morphometric vulnerability to generalised epilepsy reflects chromosome‐ and cell type‐specific transcriptomic signatures

Discovery of a Potent, Selective T‑type Calcium Channel Blocker as a Drug Candidate for the Treatment of Generalized Epilepsies

Seven‐tesla quantitative magnetic resonance spectroscopy of glutamate, γ‐aminobutyric acid, and glutathione in the posterior cingulate cortex/precuneus in patients with epilepsy

Defects at the crossroads of GABAergic signaling in generalized genetic epilepsies

Epileptic networks studied with EEG‐fMRI

Classical neurotransmitters and neuropeptides involved in generalized epilepsy in a multi-neurotransmitter system: How to improve the antiepileptic effect?

Nicotinic receptor abnormalities as a biomarker in idiopathic generalized epilepsy

Distinguishing patients with idiopathic epilepsy from solitary cysticercus granuloma epilepsy and biochemical phenotype assessment using a serum biomolecule profiling platform

NIRS‐measured oxy‐ and deoxyhemoglobin changes associated with EEG spike‐and‐wave discharges in children

Identification of epilepsy related pathways using genome-wide DNA methylation measures: A trio-based approach

SV2A protein is a broad-spectrum anticonvulsant target: Functional correlation between protein binding and seizure protection in models of both partial and generalized epilepsy

Investigation of glutamine and GABA levels in patients with idiopathic generalized epilepsy using MEGAPRESS

Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy

Atherosclerotic Effects of Long-Term Old and New Antiepileptic Drugs Monotherapy: A Cross-Sectional Comparative Study

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

Reduced axonal surface expression and phosphoinositide sensitivity in K v 7 channels disrupts their function to inhibit neuronal excitability in Kcnq2 epileptic encephalopathy

Alterations in the α 2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies

Investigation of the cingulate cortex in idiopathic generalized epilepsy

H1 histamine receptor densities are increased in brain regions of rats with genetically generalized epilepsies

Circadian phase typing in idiopathic generalized epilepsy: Dim light melatonin onset and patterns of melatonin secretion—Semicurve findings in adult patients

Classical neurotransmitters and neuropeptides involved in generalized epilepsy: a focus on antiepileptic drugs

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies

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