Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. - Wikidata - wikimedia - TriplyDB

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

http://www.wikidata.org/entity/Q45406859

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Genetics of cognition in epilepsy Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Molecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channels Epileptic encephalopathies: new genes and new pathways Retigabine, a Kv7.2/Kv7.3-Channel Opener, Attenuates Drug-Induced Seizures in Knock-In Mice Harboring Kcnq2 Mutations Potent KCNQ2/3-specific channel activator suppresses in vivo epileptic activity and prevents the development of tinnitus Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.Genetic regulation of gene expression in the epileptic human hippocampus.Emerging role of the KCNT1 Slack channel in intellectual disability.WONOEP appraisal: new genetic approaches to study epilepsy Mutations in HECW2 are associated with intellectual disability and epilepsy Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform.Ohtahara syndrome associated with hemimegalencephaly and intracranial lipoma.An Ankyrin-G N-terminal Gate and Protein Kinase CK2 Dually Regulate Binding of Voltage-gated Sodium and KCNQ2/3 Potassium Channels Genetic forms of epilepsies and other paroxysmal disorders KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.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 KCNQ2 encephalopathy: delineation of the electroclinical phenotype and treatment response.Heteromeric Kv7.2/7.3 channels differentially regulate action potential initiation and conduction in neocortical myelinated axons.Epilepsy: old syndromes, new genes.The genetics of the epilepsies.Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.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.Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations.Early and effective treatment of KCNQ2 encephalopathy.Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?Early-onset epileptic encephalopathy caused by a reduced sensitivity of Kv7.2 potassium channels to phosphatidylinositol 4,5-bisphosphate.The variable phenotypes of KCNQ-related epilepsy.Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy.Clinical Manifestations and Amplitude-integrated Encephalogram in Neonates with Early-onset Epileptic Encephalopathy.A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.Gene mutation analysis of 175 Chinese patients with early-onset epileptic encephalopathy.Genetics and genotype-phenotype correlations in early onset epileptic encephalopathy with burst suppression.

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

http://www.wikidata.org/entity/Q45406859

description

2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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2013年學術文章

@zh-hant

name

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@en

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@nl

type

label

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@en

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@nl

prefLabel

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@en

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

@nl

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation

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Ayumi Matsumoto

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David Chitayat

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Hirofumi Kashii

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Hirofumi Kodera

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Kaoru Imai

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Kayoko Saito

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Kazuyuki Nakamura

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Kenji Sugai

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Kiyomi Nishiyama

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Kiyoshi Hayasaka

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P2860

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

A potassium channel mutation in neonatal human epilepsy

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

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

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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1282-1287

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scholarly article

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10.1111/EPI.12200

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7

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54

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Yoshinori Tsurusaki

Hirotomo Saitsu

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2013-04-26T00:00:00Z

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23621294

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