Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

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A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis.

P2860

Q52321062-0B573E06-863D-4D7D-89EF-2B983D77E5C9

P2860

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

Item

http://www.wikidata.org/entity/Q39147509

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年論文

@yue

2017年論文

@zh-hant

2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

@wuu

2017年论文

@zh

2017年论文

@zh-cn

name

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@en

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@nl

type

Item

label

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@en

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@nl

prefLabel

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@en

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@nl

P1476

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

@en

P2093

Eric D Marsh

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

Ingo Helbig

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

Markus von Deimling

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

P2860

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

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

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

De novo mutations in epileptic encephalopathies

Lissencephaly and the molecular basis of neuronal migration

Association between genetic variation of CACNA1H and childhood absence epilepsy

P2888

s11910-017-0720-7

P304

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

P31

scholarly article

P356

10.1007/S11910-017-0720-7

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

P433

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

P478

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

P577

2017-02-01T00:00:00Z

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P698

28229394

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P921

pathophysiology

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

about

P2860

P2860

Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P433

P478

P577

P698

P921