Febrile seizures and generalized epilepsy associated with a mutation in the Na -channel beta1 subunit gene SCN1B. (Q48934070)

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2 December 2019

title

Febrile seizures and generalized epilepsy associated with a mutation in the Na -channel beta1 subunit gene SCN1B (English)

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2 December 2019

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11

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Robyn Wallace

1

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Ingrid Scheffer

4

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Kathrin Saar

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8

Reis A

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2 December 2019

author name string

Wang DW

2

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Singh R

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George AL Jr

5

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Phillips HA

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Johnson EW

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Sutherland GR

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Mulley JC

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language of work or name

English

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publication date

1 August 1998

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2 December 2019

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volume

19

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issue

4

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page(s)

366-370

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Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21

2 December 2019

cites work

1 reference

7 January 2021

Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest

1 reference

7 January 2021

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

1 reference

7 January 2021

Pedigree analysis in families with febrile seizures

1 reference

7 January 2021

Partial epilepsy: chinks in the armour

1 reference

7 January 2021

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

1 reference

7 January 2021

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

1 reference

7 January 2021

Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q

1 reference

7 January 2021

Genomic organization and chromosomal assignment of the human voltage-gated Na channel beta 1 subunit gene (SCN1B).

1 reference

7 January 2021

Regions of sex-specific hypo- and hyper-recombination identified through integration of 180 genetic markers into the metric physical map of human chromosome 19.

1 reference

7 January 2021

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

1 reference

7 January 2021

Mechanisms of action of currently prescribed and newly developed antiepileptic drugs

1 reference

7 January 2021

Phenotype variation and newcomers in ion channel disorders

1 reference

7 January 2021

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

1 reference

7 January 2021

Molecular determinants of Na channel function in the extracellular domain of the beta1 subunit

1 reference

7 January 2021

Molecular determinants of beta 1 subunit-induced gating modulation in voltage-dependent Na channels.

1 reference

7 January 2021

Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita

1 reference

7 January 2021

A potassium channel mutation in neonatal human epilepsy

1 reference

7 January 2021

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

1 reference

7 January 2021

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

1 reference

7 January 2021

Absence epilepsy in tottering mutant mice is associated with calcium channel defects

1 reference

7 January 2021

Mutation of the Ca2 channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

1 reference

7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

1 reference

7 January 2021

Strategies for multilocus linkage analysis in humans

1 reference

7 January 2021