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

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

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

http://www.wikidata.org/entity/Q48612999

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Advancing epilepsy genetics in the genomic era Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations Subcellular localization of K+ channels in mammalian brain neurons: remarkable precision in the midst of extraordinary complexity.De novo KCNB1 mutations in epileptic encephalopathy.Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy Flupirtine effectively prevents development of acute neonatal seizures in an animal model of global hypoxia.A roadmap for precision medicine in the epilepsies.Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios.Genetic forms of epilepsies and other paroxysmal disorders Pathway-driven discovery of epilepsy genes.KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.Novel KCNQ3 Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.Involvement of cortical fast-spiking parvalbumin-positive basket cells in epilepsy.Epilepsy-Associated KCNQ2 Channels Regulate Multiple Intrinsic Properties of Layer 2/3 Pyramidal Neurons Conditional deletions of epilepsy-associated KCNQ2 and KCNQ3 channels from cerebral cortex cause differential effects on neuronal excitability Genetic biomarkers in epilepsy.The genetics of the epilepsies.The pharmacogenomics of epilepsy.Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.The Epilepsy Spectrum: Targeting Future Research Challenges.KCNQ Potassium Channels Modulate Sensitivity of Skin Down-hair (D-hair) Mechanoreceptors.Precision medicine in genetic epilepsies: break of dawn?Pharmacogenomics in epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.Models for discovery of targeted therapy in genetic epileptic encephalopathies.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.Axonal Kv7.2/7.3 channels: caught in the act.Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.Nurture Trumps Nature in a Model of Heritable Epilepsy: Will Bumetanide Be the First Antiepileptogenic Drug?Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.Rapid and efficient CRISPR/Cas9 gene inactivation in human neurons during human pluripotent stem cell differentiation and direct reprogramming.Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.The variable phenotypes of KCNQ-related epilepsy.A Case of KCNQ2-Associated Movement Disorder Triggered by Fever.STXBP1 as a therapeutic target for epileptic encephalopathy.

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

http://www.wikidata.org/entity/Q48612999

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2014 nî lūn-bûn

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2014年の論文

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年学术文章

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2014年學術文章

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2014年學術文章

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name

Dominant-negative effects of K ...... with epileptic encephalopathy.

@en

Dominant-negative effects of K ...... with epileptic encephalopathy.

@nl

type

label

Dominant-negative effects of K ...... with epileptic encephalopathy.

@en

Dominant-negative effects of K ...... with epileptic encephalopathy.

@nl

prefLabel

Dominant-negative effects of K ...... with epileptic encephalopathy.

@en

Dominant-negative effects of K ...... with epileptic encephalopathy.

@nl

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Annals of Neurology

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

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Elke Guenther

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Gökce Orhan

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Heidi Löffler

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Holger Lerche

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Merle Bock

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Nicole Jezutkovic

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Peter De Jonghe

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Sarah Weckhuysen

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Snezana Maljevic

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Stephanie Nadine Reichel

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P2860

Myokymia and neonatal epilepsy caused by a mutation in the voltage sensor of the KCNQ2 K+ channel

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

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy

Pathways modulating neural KCNQ/M (Kv7) potassium channels.

Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits.

The C-terminus of Kv7 channels: a multifunctional module.

Regulation of neural KCNQ channels: signalling pathways, structural motifs and functional implications.

Nervous system KV7 disorders: breakdown of a subthreshold brake.

Calmodulin activation limits the rate of KCNQ2 K+ channel exit from the endoplasmic reticulum.

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382-394

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10.1002/ANA.24080

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3

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75

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Ingrid Scheffer

Dorien Schepers

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2014-03-18T00:00:00Z

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259248475

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24318194

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