Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations (Q39431641)

11 September 2017

Pure haploinsufficiency for Dravet syndrome Na(V)1.1 (SCN1A) sodium channel truncating mutations (English)

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11 September 2017

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Massimo Mantegazza

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author name string

Giulia Bechi

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11 September 2017

Emanuele Schiavon

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11 September 2017

Raffaella Rusconi

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11 September 2017

Silvana Franceschetti

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11 September 2017

9 December 2011

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11 September 2017

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11 September 2017

53

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11 September 2017

87-100

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Molecular determinants of emerging excitability in rat embryonic motoneurons.

11 September 2017

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Early nonsense: mRNA decay solves a translational problem

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Self-limited hyperexcitability: functional effect of a familial hemiplegic migraine mutation of the Nav1.1 (SCN1A) Na+ channel

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A minor alternative transcript of the fumarylacetoacetate hydrolase gene produces a protein despite being likely subjected to nonsense-mediated mRNA decay

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

The ubiquitylation machinery of the endoplasmic reticulum

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Distinct contributions of Na(v)1.6 and Na(v)1.2 in action potential initiation and backpropagation.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Dominant-negative effects of episodic ataxia type 2 mutations involve disruption of membrane trafficking of human P/Q-type Ca2+ channels.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Reduced sodium current in Purkinje neurons from Nav1.1 mutant mice: implications for ataxia in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Novel mRNA isoforms of the sodium channels Na(v)1.2, Na(v)1.3 and Na(v)1.7 encode predicted two-domain, truncated proteins

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Neuronal proteins custom designed by alternative splicing

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A catalog of SCN1A variants

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Dravet syndrome: insights from in vitro experimental models.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Beta-scorpion toxin effects suggest electrostatic interactions in domain II of voltage-dependent sodium channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Voltage-gated sodium channels as therapeutic targets in epilepsy and other neurological disorders.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Epileptogenic ion channel mutations: from bedside to bench and, hopefully, back again

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Na+ channelopathies and epilepsy: recent advances and new perspectives.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A destructive interaction mechanism accounts for dominant-negative effects of misfolded mutants of voltage-gated calcium channels.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

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/10.1111%2FJ.1528-1167.2011.03346.X

Novel splice variants of the voltage-sensitive sodium channel alpha subunit.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Binding specificity of sea anemone toxins to Nav 1.1-1.6 sodium channels: unexpected contributions from differences in the IV/S3-S4 outer loop.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Dominant-negative calcium channel suppression by truncated constructs involves a kinase implicated in the unfolded protein response.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

N terminus is key to the dominant negative suppression of Ca(V)2 calcium channels: implications for episodic ataxia type 2.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

21 January 2018

CaV2.1 channelopathies

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: common mechanism in Nav1.1 related epilepsies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

A single serine residue confers tetrodotoxin insensitivity on the rat sensory-neuron-specific sodium channel SNS.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Nav1.1 channels with mutations of severe myoclonic epilepsy in infancy display attenuated currents.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Localization and targeting of voltage-dependent ion channels in mammalian central neurons.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

Comparative distribution of voltage-gated sodium channel proteins in human brain

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1528-1167.2011.03346.X

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/10.1111%2FJ.1528-1167.2011.03346.X

10.1111/J.1528-1167.2011.03346.X

21 January 2018

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11 September 2017

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