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QJM Advance Access originally published online on February 22, 2006
QJM 2006 99(4):201-217; doi:10.1093/qjmed/hcl021
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© The Author 2006. Published by Oxford University Press on behalf of the Association of Physicians. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Reviews

Ion channels and epilepsy

T.D. Graves

From the Department of Molecular Neurosciences, Institute of Neurology, University College London, London, UK

Address correspondence to Dr T.D. Graves, Department of Molecular Neurosciences, Institute of Neurology, University College London, Queen Square, London WC1N 3BG. email: t.graves@ion.ucl.ac.uk

The first 150 words of the full text of this article appear below.


   Introduction
 
In order for cells to retain their integrity to water and yet permeate charged ions, the phospholipid cell membrane contains transmembrane proteins that allow the passage of specific ions from the interior of the cell to outside, and vice versa. There is a huge diversity of these ion channels. Some are tissue-specific; others are widely distributed throughout the body. They contribute to the maintenance of the negative resting membrane potential inside cells. Unsurprisingly, these membrane channels are integral to the processes of electrical signalling and excitation that are central to the functioning of the nervous system. Figure 1a shows a generic ion channel.


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  		Figure 1. (A) Diagrammatic representation of a voltage-gated ion channel {alpha} subunit. This could be a sodium or calcium channel. Note the four homologous repeats (I–IV), each with six transmembrane domains (1–6). The fourth transmembrane domain (4) has positively charged segments and acts as the voltage sensor. . . . [Full Text of this Article]

 

   Functional assays
 

   Mendelian epilepsy syndromes
 

   Focal epilepsy
 
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

   Mixed focal and generalized epilepsies
 
Benign familial neonatal convulsions (BFNC)
BFNC/myokymia syndrome
Generalized epilepsy with febrile seizures plus syndrome (GEFS+)
GEFS+ type 1
GEFS+ type 2
GEFS+ type 3
Severe myoclonic epilepsy of infancy (SMEI)
Intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTCS)
Benign familial neonatal-infantile seizures (BFNIS)

   Generalized epilepsies
 
Childhood absence epilepsy (CAE)
Juvenile absence epilepsy (JAE)
Juvenile myoclonic epilepsy (JME)
Epilepsy with grand mal seizures on awakening (EGMA)
Generalized epilepsy with paroxysmal dyskinesias (GEPD)

   Other autosomal dominant channelopathies associated with epilepsy
 
Episodic ataxia type 1 (EA1)
Episodic ataxia type 2 (EA2)
Familial hemiplegic migraine (FHM)

   Association studies and IGE
 
Drug responsiveness

   Anticonvulsant medications
 

   Conclusions
 

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