(Q38768616)

6 September 2017

title

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study (English)

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6 September 2017

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Epi4K consortium

1

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6 September 2017

Epilepsy Phenome/Genome Project

series ordinal

2

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6 September 2017

publication date

1 February 2017

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6 September 2017

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6 September 2017

volume

16

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6 September 2017

issue

2

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6 September 2017

page(s)

135-143

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Unlocking Mendelian disease using exome sequencing

6 September 2017

cites work

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A roadmap for precision medicine in the epilepsies

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7 January 2021

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

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7 January 2021

De novo mutations in epileptic encephalopathies

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7 January 2021

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

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7 January 2021

Genetics of epilepsy: The testimony of twins in the molecular era

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7 January 2021

Familial risk of epilepsy: a population-based study

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7 January 2021

Uncovering the roles of rare variants in common disease through whole-genome sequencing

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7 January 2021

Common genetic variation and human traits

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7 January 2021

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

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7 January 2021

Finding the missing heritability of complex diseases

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7 January 2021

Computational neuroanatomy of speech production.

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7 January 2021

Sequencing studies in human genetics: design and interpretation.

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7 January 2021

Epi4K: gene discovery in 4,000 genomes

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7 January 2021

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

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7 January 2021

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

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7 January 2021

A method and server for predicting damaging missense mutations

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7 January 2021

FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism

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7 January 2021

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.

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7 January 2021

The Mouse Genome Database (MGD): facilitating mouse as a model for human biology and disease

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7 January 2021

The IUPHAR/BPS Guide to PHARMACOLOGY: an expert-driven knowledgebase of drug targets and their ligands

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7 January 2021

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

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7 January 2021

Quinidine in the treatment of KCNT1-positive epilepsies

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7 January 2021

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

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7 January 2021

Targeted treatment of migrating partial seizures of infancy with quinidine

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7 January 2021

Functional analysis of a de novo GRIN2A missense mutation associated with early-onset epileptic encephalopathy

1 reference

https://api.crossref.org/works/10.1016%2FS1474-4422%2816%2930359-3

7 January 2021

10.1016/S1474-4422(16)30359-3

Identifiers

DOI

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6 September 2017

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