Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

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Emerging Monogenic Complex Hyperkinetic Disorders.Genomic mosaicism in paternal sperm and multiple parental tissues in a Dravet syndrome cohort.Novel pregnancy-triggered episodes of CAPOS syndrome.

P2860

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P2860

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

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http://www.wikidata.org/entity/Q50313594

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

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2016年学术文章

@zh-my

2016年学术文章

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2016年學術文章

@yue

2016年學術文章

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name

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

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Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

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type

Item

label

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

@en

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

@nl

prefLabel

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

@en

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

@nl

P1476

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

@en

P2093

Claude Besmond

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

Isabelle Desguerre

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

Juliette Ropars

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Laurence Hubert

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Louise Reilly

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

Marie Hully

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

Mathieu Bernardelli

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

Nadia Bahi-Buisson

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

Pascale de Lonlay

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P2860

Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

Mechanisms and consequences of somatic mosaicism in humans

Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome

The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

Recurrence risk for germinal mosaics revisited.

P2888

s10048-016-0498-9

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23-28

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scholarly article

P356

10.1007/S10048-016-0498-9

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P433

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

P478

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Nathalie Boddaert

Arnold Munnich

Marlene Rio

Valerie Cormier-Daire

P577

2016-10-10T00:00:00Z

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P698

27726050

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Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

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P2860

P2860

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

description

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P1433

P1476

P2093

P2860

P2888

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P356

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P50

P577

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P356

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P2888

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P478

P50

P577

P698