(Q37866830)

24 August 2017

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title

Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants (English)

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24 August 2017

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cognitive dysfunction

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1

Renzo Guerrini

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24 August 2017

Melania Falchi

2

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24 August 2017

publication date

1 April 2011

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Developmental Medicine and Child Neurology

24 August 2017

published in

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24 August 2017

volume

53 Suppl 2

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24 August 2017

page(s)

11-15

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Severe myoclonic epilepsy of infants (Dravet syndrome): natural history and neuropsychological findings.

24 August 2017

cites work

1 reference

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Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

21 January 2018

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Progressive neurocognitive decline in two children with Dravet syndrome, de novo SCN1A truncations and different epileptic phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03966.X

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

21 January 2018

1 reference

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Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03966.X

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

21 January 2018

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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/10.1111%2FJ.1469-8749.2011.03966.X

SCN1A mutations and epilepsy

21 January 2018

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Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1469-8749.2011.03966.X

Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy

21 January 2018

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Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

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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)

21 January 2018

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Severe epilepsy, retardation, and dysmorphic features with a 2q deletion including SCN1A and SCN2A

21 January 2018

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Four generations of epilepsy caused by an inherited microdeletion of the SCN1A gene.

21 January 2018

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Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

21 January 2018

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

21 January 2018

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Protocadherin 19 mutations in girls with infantile-onset epilepsy.

21 January 2018

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X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

21 January 2018

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Pathophysiological mechanisms of brain damage from status epilepticus

21 January 2018

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

21 January 2018

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Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

21 January 2018

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

21 January 2018

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Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

21 January 2018

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Unusual consequences of status epilepticus in Dravet syndrome.

21 January 2018

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

21 January 2018

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A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

21 January 2018

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Nonconvulsive status epilepticus--a possible cause of mental retardation in patients with Lennox-Gastaut syndrome.

21 January 2018

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Visual sensitivity and epilepsy: a proposed terminology and classification for clinical and EEG phenomenology

21 January 2018

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Cognitive side effects of antiepileptic drugs in children

21 January 2018

1 reference

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Phenobarbital for febrile seizures--effects on intelligence and on seizure recurrence

21 January 2018

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Late cognitive effects of early treatment with phenobarbital

21 January 2018

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10.1111/J.1469-8749.2011.03966.X

21 January 2018

Identifiers

DOI

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24 August 2017

1 reference