SLC25A22 is a novel gene for migrating partial seizures in infancy. - Wikidata - thesis-toulmin - TriplyDB

SLC25A22 is a novel gene for migrating partial seizures in infancy.

SLC25A22 is a novel gene for migrating partial seizures in infancy.

http://www.wikidata.org/entity/Q33651270

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Recent developments in the genetics of childhood epileptic encephalopathies: impact in clinical practice Advancing epilepsy genetics in the genomic era Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay Inhibition of the Mitochondrial Glutamate Carrier SLC25A22 in Astrocytes Leads to Intracellular Glutamate Accumulation.AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy Genetic forms of epilepsies and other paroxysmal disorders Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay Epilepsy: old syndromes, new genes.Mitochondrial transporters of the SLC25 family and associated diseases: a review.Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures.The genetics of the epilepsies.Lessons learned from gene identification studies in Mendelian epilepsy disorders.KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects.Current Treatment Options for Early-Onset Pediatric Epileptic Encephalopathies.A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.An integrative in silico system for predicting dysregulated genes in the human epileptic focus: Application to SLC transporters.De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.LC-MS-based metabolomics revealed SLC25A22 as an essential regulator of aspartate-derived amino acids and polyamines in KRAS-mutant colorectal cancer.De novo GABRG2 mutations associated with epileptic encephalopathies.Reply

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P2860

SLC25A22 is a novel gene for migrating partial seizures in infancy.

http://www.wikidata.org/entity/Q33651270

description

2013 nî lūn-bûn

@nan

2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年論文

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2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

name

SLC25A22 is a novel gene for migrating partial seizures in infancy.

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

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type

label

SLC25A22 is a novel gene for migrating partial seizures in infancy.

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

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prefLabel

SLC25A22 is a novel gene for migrating partial seizures in infancy.

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

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P1433

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P1433

Annals of Neurology

P1476

SLC25A22 is a novel gene for migrating partial seizures in infancy

@en

P2093

A James Barkovich

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

Annapurna Poduri

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

Brenda Barry

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

Christopher A Walsh

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

Christopher M LaCoursiere

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

Emilie Martin

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

Erin L Heinzen

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

Fahad A Bashiri

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

Ferdinando Palmieri

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

Jennifer N Partlow

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

P2860

Identification of the mitochondrial glutamate transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution of two human isoforms

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

WDR62 is associated with the spindle pole and is mutated in human microcephaly

A novel member of solute carrier family 25 (SLC25A42) is a transporter of coenzyme A and adenosine 3',5'-diphosphate in human mitochondria

The insulin-like growth factor-I-mTOR signaling pathway induces the mitochondrial pyrimidine nucleotide carrier to promote cell growth

Exome sequencing identifies the cause of a mendelian disorder

De novo mutations in epileptic encephalopathies

The Sequence Alignment/Map format and SAMtools

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873-882

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scholarly article

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10.1002/ANA.23998

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6

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74

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Ingrid Scheffer

Sanjeev V Kothare

Mustafa A. Salih

Christopher J Yuskaitis

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2013-12-01T00:00:00Z

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260529688

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24596948

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4031329

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