SPTAN1 encephalopathy: distinct phenotypes and genotypes. - Wikidata - awgldk - TriplyDB

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

http://www.wikidata.org/entity/Q30886525

about

The role of prostate tumor overexpressed 1 in cancer progression 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping Human mutations in integrator complex subunits link transcriptome integrity to brain development.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.A customized high-resolution array-comparative genomic hybridization to explore copy number variations in Parkinson's disease Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Regulation and dysregulation of axon infrastructure by myelinating glia.αII Spectrin Forms a Periodic Cytoskeleton at the Axon Initial Segment and Is Required for Nervous System Function.Critical roles of αII spectrin in brain development and epileptic encephalopathy.Spectrin and its interacting partners in nuclear structure and function.

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P2860

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

http://www.wikidata.org/entity/Q30886525

description

2015 nî lūn-bûn

@nan

2015 թուականի Յունուարին հրատարակուած գիտական յօդուած

@hyw

2015 թվականի հունվարին հրատարակված գիտական հոդված

@hy

2015年の論文

@ja

2015年論文

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2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

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name

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

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SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@en

type

label

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@ast

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@en

prefLabel

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@ast

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@en

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P1433

Journal of Human Genetics

P1476

SPTAN1 encephalopathy: distinct phenotypes and genotypes.

@en

P2093

Ch'ng Gaik-Siew

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

Jun Tohyama

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Mitsuko Nakashima

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Naomichi Matsumoto

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Rie Miyata

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Shin Nabatame

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Zvonka Rener-Primec

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P2860

3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis

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

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

De novo mutations in epileptic encephalopathies

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

Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX

Early onset West syndrome with severe hypomyelination and coloboma-like optic discs in a girl with SPTAN1 mutation

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

De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathy

Spectrins: a structural platform for stabilization and activation of membrane channels, receptors and transporters.

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167-173

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10.1038/JHG.2015.5

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4

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60

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Hirotomo Saitsu

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2015-01-29T00:00:00Z

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25631096

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