Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. (Q39172712)

From Wikidata

Jump to navigation Jump to search

scientific article published on 19 November 2016

Language	Label	Description	Also known as
English	Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.	scientific article published on 19 November 2016

Statements

scholarly article

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

3

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

5

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Claudia Bianchini

9

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

13

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Martino Montomoli

15

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

16

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

19

object named as

Renzo Guerrini

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

17

object named as

Anna Rosati

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Daniela Pucatti

6

object named as

Daniela Pucatti

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

4

object named as

Anna Galuppi

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

7

object named as

Laura Chiti

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Francesco Saverio Mari

14

object named as

Francesco Mari

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Domenico Rutigliano

8

object named as

Domenico Rutigliano

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

10

object named as

Simona Virdò

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

11

object named as

Dalila De Vita

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

author name string

Carla Marini

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Stefania Bigoni

12

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Clinical Study Group

18

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

publication date

9 December 2016

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

38

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

216-225

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

A recurrent KCNQ2 pore mutation causing early onset epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Migraine and epilepsy: a focus on overlapping clinical, pathophysiological, molecular, and therapeutic aspects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Genotype phenotype associations across the voltage-gated sodium channel family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

X-linked pyruvate dehydrogenase E1 alpha subunit deficiency in heterozygous females: variable manifestation of the same mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Pitfalls in genetic testing: the story of missed SCN1A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo mutations in epileptic encephalopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

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)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Monogenic idiopathic epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Epilepsy in children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

The spectrum of SCN1A-related infantile epileptic encephalopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Navigating the channels and beyond: unravelling the genetics of the epilepsies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Recent advances in the molecular genetics of epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Definition of drug resistant epilepsy: consensus proposal by the ad hoc Task Force of the ILAE Commission on Therapeutic Strategies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

The phenotypic spectrum of SCN8A encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Fast and accurate short read alignment with Burrows-Wheeler transform

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Copy Number Matters in Epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Advancing epilepsy genetics in the genomic era

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Early onset epileptic encephalopathy caused by de novo SCN8A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Early and effective treatment of KCNQ2 encephalopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Pyridoxine responsiveness in novel mutations of the PNPO gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Validation of high-resolution DNA melting analysis for mutation scanning of the CDKL5 gene: identification of novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Characterization of two de novoKCNT1 mutations in children with malignant migrating partial seizures in infancy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Kv1.1 and Kv1.2: similar channels, different seizure models

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Mutation Update for UBE3A variants in Angelman syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Dominant-negative mutations in alpha-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

A validation of the new definition of drug-resistant epilepsy by the International League Against Epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

SPTAN1 encephalopathy: distinct phenotypes and genotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

De novo KCNB1 mutations in epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

21 January 2018

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

7 January 2021

based on heuristic

inferred from DOI database lookup

Diagnostic yield of clinical next-generation sequencing panels for epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.23149

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.23149

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27864847%20AND%20SRC:MED&resulttype=core&format=json

27 March 2020

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q39172712&oldid=2079345902"