Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2004 Mar;4(2):65-70.
doi: 10.1111/j.1535-7597.2004.42010.x.

Inherited Channelopathies Associated with Epilepsy

Alfred L George Jr  1
Affiliations

Inherited Channelopathies Associated with Epilepsy

Alfred L George Jr. Epilepsy Curr. 2004 Mar.

Abstract

Ion channels are critical for neuronal excitability and provide important targets for anticonvulsant drugs. In the past few years, several monogenetic epilepsies have been linked to mutations in genes encoding either voltage-gated or ligand-gated channels. The recognition that certain epilepsy syndromes are "channelopathies" initiates a new era in understanding the molecular pathophysiology of seizure disorders. This review summarizes recent advances related to this exciting area of investigation.

PubMed Disclaimer

Figures

FIGURE 1
FIGURE 1
Chromosomal locations of ion channel genes associated with inherited epilepsy. The position of each gene is represented by a shaded box adjacent to the respective chromosome ideogram. A structural model of the corresponding ion channel protein encoded by each gene is also illustrated.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 1998;18: 25–29. - PubMed
    1. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 1998;18: 53–55. - PubMed
    1. Wang HS, Pan Z, Shi W, Brown BS, Wymore RS, Cohen IS, Dixon JE, McKinnon D. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science 1998;282: 1890–1893. - PubMed
    1. Schroeder BC, Kubisch C, Stein V, Jentsch TJ. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature 1998;396: 687–690. - PubMed
    1. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus: a genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120: 479–490. - PubMed