Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies. - sprookjes - yvandenbroek - TriplyDB

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

http://www.wikidata.org/entity/Q37356251

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Genetic Testing in Pediatric Epilepsy.The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation.Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.Efficient strategy for the molecular diagnosis of intractable early-onset epilepsy using targeted gene sequencing.Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes.Gene panel analysis for nonsyndromic cryptogenic neonatal/infantile epileptic encephalopathy.Incorporating epilepsy genetics into clinical practice: a 360°evaluation.Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus Novel and de novo mutations in pediatric refractory epilepsy

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

http://www.wikidata.org/entity/Q37356251

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 20 August 2016

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

@en

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

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type

label

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

@en

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

@nl

prefLabel

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

@en

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

@nl

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Molecular syndromology

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Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

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Alfred P Born

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Bente Krag-Olsen

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Birgit Jepsen

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Deb K Pal

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Ditte B Kjelgaard

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Dragan Marjanovic

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Guido Rubboli

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Hans A Dahl

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Helle Hjalgrim

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Inga Talvik

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P2860

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

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

De novo mutations in epileptic encephalopathies

Crystal structure of the human glucose transporter GLUT1

De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

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

GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak.

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210-219

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scholarly article

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10.1159/000448369

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4

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7

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Rikke S Møller

Katrine M Johannesen

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2016-08-20T00:00:00Z

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27781031

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5073625

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