Channelopathies

Known as: Channelopathies [Disease/Finding], Channelopathy 
A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1992-2018
05010015019922018

Papers overview

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Highly Cited
2008
Highly Cited
2008
To identify susceptibility loci for bipolar disorder, we tested 1.8 million variants in 4,387 cases and 6,209 controls and… (More)
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Highly Cited
2007
Highly Cited
2007
In myotonic dystrophy (dystrophia myotonica [DM]), an increase in the excitability of skeletal muscle leads to repetitive action… (More)
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Highly Cited
2006
Highly Cited
2006
The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous… (More)
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Highly Cited
2006
Highly Cited
2006
Classifications of heart muscle diseases have proved to be exceedingly complex and in many respects contradictory. Indeed, the… (More)
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Highly Cited
2005
Highly Cited
2005
Neuromyelitis optica (NMO) is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. It is… (More)
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Highly Cited
2005
Highly Cited
2005
The large conductance calcium-sensitive potassium (BK) channel is widely expressed in many organs and tissues, but its in vivo… (More)
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Highly Cited
2004
Highly Cited
2004
Inherited channelopathies are at the origin of many neurological disorders. Here we report a form of channelopathy that is… (More)
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Highly Cited
2002
Highly Cited
2002
Inwardly rectifying K(+) (Kir) channels are important regulators of resting membrane potential and cell excitability. The… (More)
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Highly Cited
1998
Highly Cited
1998
Febrile seizures affect approximately 3% of all children under six years of age and are by far the most common seizure disorder… (More)
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Highly Cited
1996
Highly Cited
1996
Genes for familial hemiplegic migraine (FHM) and episodic ataxia type-2 (EA-2) have been mapped to chromosome 19p13. We… (More)
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