(Q39598983)

13 September 2017

title

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome (English)

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13 September 2017

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A Brunklaus

1

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13 September 2017

R Ellis

2

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13 September 2017

E Reavey

3

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13 September 2017

G H Forbes

4

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13 September 2017

S M Zuberi

5

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13 September 2017

language of work or name

English

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publication date

19 June 2012

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13 September 2017

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13 September 2017

volume

135

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13 September 2017

issue

Pt 8

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13 September 2017

page(s)

2329-2336

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De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

13 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Comorbidities and predictors of health-related quality of life in Dravet syndrome

21 January 2018

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Severe myoclonic epilepsy in infancy: toward an optimal treatment

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Unusual consequences of status epilepticus in Dravet syndrome.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

The SCN1A variant database: a novel research and diagnostic tool.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Sporadic infantile epileptic encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome but mainly affects females

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

The spectrum of SCN1A-related infantile epileptic encephalopathies

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Epidemiology of Severe Myoclonic Epilepsy of Infancy

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

A catalog of SCN1A variants

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Translational research in epilepsy genetics: sodium channels in man to interneuronopathy in mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Clinical and neuropathologic findings in a case of severe myoclonic epilepsy of infancy

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Hippocampal abnormalities after prolonged febrile convulsion: a longitudinal MRI study

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Hippocampal sclerosis in severe myoclonic epilepsy in infancy: a retrospective MRI study.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Dravet syndrome and parent associations: the IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Acute encephalopathy with a truncation mutation in the SCN1A gene: a case report.

21 January 2018

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A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Levetiracetam in childhood epilepsy

21 January 2018

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https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Genotype-phenotype associations in SCN1A-related epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWS151

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWS151

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13 September 2017

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