(Q37576848)

21 August 2017

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title

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations (English)

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21 August 2017

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Carl E Stafstrom

1

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21 August 2017

language of work or name

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1 August 2009

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Journal of Child Neurology

21 August 2017

published in

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21 August 2017

volume

24

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21 August 2017

issue

8 Suppl

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21 August 2017

page(s)

15S-23S

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Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 August 2017

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Report of the ILAE classification core group

21 January 2018

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Epileptic syndromes in infancy and childhood

21 January 2018

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Mechanisms of human inherited epilepsies

21 January 2018

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Inherited neuronal ion channelopathies: new windows on complex neurological diseases

21 January 2018

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Navigating the channels and beyond: unravelling the genetics of the epilepsies

21 January 2018

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Genetic mechanisms that underlie epilepsy

21 January 2018

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Channel, neuronal and clinical function in sodium channelopathies: from genotype to phenotype

21 January 2018

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KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

21 January 2018

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https://api.crossref.org/works/10.1177%2F0883073809338152

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

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Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

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The spectrum of SCN1A-related infantile epileptic encephalopathies.

21 January 2018

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How do mutant Nav1.1 sodium channels cause epilepsy?

21 January 2018

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Inherited disorders of voltage-gated sodium channels

21 January 2018

1 reference

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Site of action potential initiation in layer 5 pyramidal neurons.

21 January 2018

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Sodium channel beta subunits: anything but auxiliary

21 January 2018

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Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 January 2018

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Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

21 January 2018

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Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

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A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33.

21 January 2018

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Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 January 2018

1 reference

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A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

21 January 2018

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Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

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

21 January 2018

1 reference

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Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Severe myoclonic epilepsy in infants--a review based on the Tokyo Women's Medical University series of 84 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

A catalog of SCN1A variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Molecular basis of an inherited epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)1.1 sodium channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Single-channel properties of human NaV1.1 and mechanism of channel dysfunction in SCN1A-associated epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Persistent Sodium Current and Its Role in Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

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/10.1177%2F0883073809338152

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/10.1177%2F0883073809338152

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

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Role of genetics in the diagnosis and treatment of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Differentiating embryonic stem-derived neural stem cells show a maturation-dependent pattern of voltage-gated sodium current expression and graded action potentials.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1177%2F0883073809338152

21 January 2018

Identifiers

DOI

10.1177/0883073809338152

1 reference

21 August 2017

1 reference