(Q28249270)

2

object named as

Ingrid E Scheffer

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Leanne Dibbens

4

object named as

Leanne M Dibbens

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author name string

John C Mulley

1

0 references

Steven Petrou

3

0 references

Louise A Harkin

Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

6

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language of work or name

English

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publication date

June 2005

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published in

Human Mutation

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volume

25

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issue

6

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page(s)

535-42

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cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

Linkage of atypical myotonia congenita to a sodium channel locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

A sodium channel mutation causing epilepsy in man exhibits subtle defects in fast inactivation and activation in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Two mutations in the IV/S4-S5 segment of the human skeletal muscle Na+ channel disrupt fast and enhance slow inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Molecular mechanism for an inherited cardiac arrhythmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Phenotype variation and newcomers in ion channel disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

From mutation to myotonia in sodium channel disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Sodium-channel defects in benign familial neonatal-infantile seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Primary structure and functional expression of the beta 1 subunit of the rat brain sodium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Auxiliary subunits of voltage-gated ion channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Structure and function of the beta 2 subunit of brain sodium channels, a transmembrane glycoprotein with a CAM motif

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel alpha 1 subunit gene, SCN1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Molecular basis of an inherited epilepsy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

No evidence of GABRG2 mutations in severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Lack of SCN1A mutations in familial febrile seizures

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Structure and function of voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Evolution and diversity of mammalian sodium channel genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Identification of a mutation in the gene causing hyperkalemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Noninactivating voltage-gated sodium channels in severe myoclonic epilepsy of infancy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Alternatively spliced sodium channel transcripts in brain and muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Severe infantile epilepsies: molecular genetics challenge clinical classification.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Increased neuronal firing in computer simulations of sodium channel mutations that cause generalized epilepsy with febrile seizures plus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

High-accuracy DNA sequence variation screening by DHPLC.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Denaturing high-performance liquid chromatography: A review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021

Overview of the voltage-gated sodium channel family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20178

7 January 2021