(Q45947607)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28759667%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

title

Early-Life Epilepsies and the Emerging Role of Genetic Testing (English)

1 reference

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26 March 2020

4

1 reference

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26 March 2020

Courtney Wusthoff

15

1 reference

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26 March 2020

Edward J. Novotny

21

1 reference

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26 March 2020

12

Eric H Kossoff

1 reference

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26 March 2020

17

William B Dobyns

1 reference

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26 March 2020

19

Tobias Loddenkemper

1 reference

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26 March 2020

1

Anne T Berg

1 reference

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26 March 2020

author name string

Jason Coryell

2

1 reference

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26 March 2020

Russell P Saneto

3

1 reference

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26 March 2020

John J Alexander

5

1 reference

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26 March 2020

Mariana Kekis

6

1 reference

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26 March 2020

Joseph E Sullivan

7

1 reference

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26 March 2020

Elaine C Wirrell

8

1 reference

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26 March 2020

Renée A Shellhaas

9

1 reference

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26 March 2020

John R Mytinger

10

1 reference

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26 March 2020

William D Gaillard

11

1 reference

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26 March 2020

Ignacio Valencia

13

1 reference

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26 March 2020

Kelly G Knupp

14

1 reference

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26 March 2020

Cynthia Keator

16

1 reference

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26 March 2020

Nicole Ryan

18

1 reference

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26 March 2020

Catherine J Chu

20

1 reference

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26 March 2020

Sookyong Koh

22

1 reference

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26 March 2020

language of work or name

English

0 references

publication date

1 September 2017

1 reference

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26 March 2020

1 reference

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26 March 2020

volume

171

1 reference

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26 March 2020

issue

9

1 reference

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26 March 2020

page(s)

863-871

1 reference

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Barriers to Genetic Testing for Pediatric Medicaid Beneficiaries With Epilepsy.

26 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Newborn screening: a review of history, recent advancements, and future perspectives in the era of next generation sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Reducing the Cost of the Diagnostic Odyssey in Early Onset Epileptic Encephalopathies.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

De novo KCNB1 mutations in epileptic encephalopathy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Somatic mutations in cerebral cortical malformations

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Copy number variation plays an important role in clinical epilepsy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Our experience with the aetiological diagnosis of global developmental delay and intellectual disability: 2006-2010.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

The emerging agenda of stratified medicine in neurology

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

De novo mutations in epileptic encephalopathies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Somatic mutation, genomic variation, and neurological disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

A prospective long-term study on the outcome after vagus nerve stimulation at maximally tolerated current intensity in a cohort of children with refractory secondary generalized epilepsy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Evidence report: Genetic and metabolic testing on children with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

So what? Does the test lead to improved health outcomes?

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: evidence from the United Kingdom Infantile Spasms Study.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Evaluation of algorithms for intracranial EEG (iEEG) source imaging of extended sources: feasibility of using iEEG source imaging for localizing epileptogenic zones in secondary generalized epilepsy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Epilepsy, cognition, and behavior: The clinical picture

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Guidelines for imaging infants and children with recent-onset epilepsy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Twenty years after childhood-onset symptomatic generalized epilepsy the social outcome is usually dependency or death: a population-based study.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Economic methods for valuing the outcomes of genetic testing: beyond cost-effectiveness analysis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Following catastrophic epilepsy patients from childhood to adulthood

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Infantile spasms in Down syndrome--effects of delayed anticonvulsive treatment.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Topiramate in the catastrophic epilepsies of childhood.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Incidence of epilepsy in childhood and adolescence: a population-based study in Nova Scotia from 1977 to 1985.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

The axial spasm--the predominant type of drop seizure in patients with secondary generalized epilepsy.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Secondary generalized epilepsy in childhood: EEG patterns and correlation with responsiveness to benzodiazepines or ACTH (preliminary note).

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Malformations of cortical development and epilepsy

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5710404

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

29 September 2018

1 reference

12 December 2020

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study

1 reference

12 December 2020

Practice parameter: evaluating a first nonfebrile seizure in children: report of the quality standards subcommittee of the American Academy of Neurology, The Child Neurology Society, and The American Epilepsy Society

1 reference

12 December 2020

A trial of discontinuation of barbiturates in patients with secondary generalized epilepsy

1 reference

12 December 2020

Diagnosis and management of the epilepsies in adults and children: summary of updated NICE guidance

1 reference

12 December 2020

10.1001/JAMAPEDIATRICS.2017.1743

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28759667%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28759667%20AND%20SRC:MED&resulttype=core&format=json

26 March 2020

1 reference