Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

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Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.Slc7a5 regulates Kv1.2 channels and modifies functional outcomes of epilepsy-linked channel mutations

P2860

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P2860

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

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http://www.wikidata.org/entity/Q46352293

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年学术文章

@zh-my

2017年学术文章

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2017年學術文章

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2017年學術文章

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name

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@en

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@nl

type

Item

label

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@en

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@nl

prefLabel

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@en

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

@nl

P1476

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies

@en

P2093

Adrian Binelli

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Beatriz G Giraldez

http://www.w3.org/2001/XMLSchema#string

Brenda Porter

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Brendan C Lanpher

http://www.w3.org/2001/XMLSchema#string

Bruria Ben Zeev

http://www.w3.org/2001/XMLSchema#string

Charu Kaiwar

http://www.w3.org/2001/XMLSchema#string

Christian Korff

http://www.w3.org/2001/XMLSchema#string

Christina A Bergqvist

http://www.w3.org/2001/XMLSchema#string

Dafne D Horovitz

http://www.w3.org/2001/XMLSchema#string

Dragan Marjanovic

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P2860

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

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

De novo mutations in epileptic encephalopathies

Ion channels in genetic and acquired forms of epilepsy.

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

Mechanisms of human inherited epilepsies.

Identification of a trafficking determinant localized to the Kv1 potassium channel pore

Mutations in the K+ channel signature sequence.

Interactions of the H5 pore region and hydroxylamine with N-type inactivation in the Shaker K+ channel

A new Kv1.2 channelopathy underlying cerebellar ataxia.

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2337-2354

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scholarly article

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10.1093/BRAIN/AWX184

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English

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140

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2017-09-01T00:00:00Z

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29050392

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Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

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P2860

P2860

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

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P698