(Q34415194)

2 August 2017

The hidden genetics of epilepsy-a clinically important new paradigm (English)

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2 August 2017

Rhys H Thomas

1

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Samuel Berkovic

object named as

Samuel F Berkovic

series ordinal

2

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language of work or name

English

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publication date

15 April 2014

1 reference

2 August 2017

Nature Reviews Neurology

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2 August 2017

10

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2 August 2017

5

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2 August 2017

283-292

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https://scigraph.springernature.com/pub.10.1038/nrneurol.2014.62

2 August 2017

0 references

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A genome-wide association study and biological pathway analysis of epilepsy prognosis in a prospective cohort of newly treated epilepsy

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A potassium channel mutation in neonatal human epilepsy

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A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

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Exome sequencing can improve diagnosis and alter patient management

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Lentiviral vector-mediated SERCA2 gene transfer protects against heart failure and left ventricular remodeling after myocardial infarction in rats

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Implications for families of advances in understanding the genetic basis of epilepsy

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The pharmacologic treatment of Dravet syndrome

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HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans

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Familial mesial temporal lobe epilepsy: a benign epilepsy syndrome showing complex inheritance

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Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

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Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

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The risks of seizure disorders among relatives of patients with childhood onset epilepsy

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Concordance of clinical forms of epilepsy in families with several affected members. Italian League Against Epilepsy Genetic Collaborative Group

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Targeted next generation sequencing as a diagnostic tool in epileptic disorders

31 March 2020

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Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy

31 March 2020

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Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.

31 March 2020

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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

31 March 2020

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Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

31 March 2020

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Is modern genetics a blind alley? Yes

31 March 2020

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Gene therapy in epilepsy-is it time for clinical trials?

31 March 2020

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SCN1A mutation mosaicism in a family with severe myoclonic epilepsy in infancy

31 March 2020

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Parental mosaicism can cause recurrent transmission ofSCN1A mutations associated with severe myoclonic epilepsy of infancy

31 March 2020

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Genetic testing in the epilepsies-developments and dilemmas

31 March 2020

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Head stereotypies in STXBP1 encephalopathy.

31 March 2020

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24733163

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NRNEUROL.2014.62

1 reference

PubMed ID

24733163

Dimensions Publication ID

2 August 2017

0 references

1 reference

PubMed ID

24733163