Potassium (K+) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K+ channel diversity depends on the presence in the human genome of a large number of genes either encoding pore-forming or accessory subunits. More than 80 genes encoding the K+ channels were cloned and they represent the largest group of ion channels regulating the electrical activity of cells in different tissues, including the brain. It is therefore not surprising that mutations in these genes lead to K+ channels dysfunctions linked to inherited epilepsy in humans and non-human model animals. This article reviews genetic and molecular progresses in exploring the pathogenesis of different human epilepsies, with special emphasis on the role of K+ channels in monogenic forms.

Villa, C., & Combi, R. (2016). Potassium channels and human epileptic phenotypes: An updated overview. FRONTIERS IN CELLULAR NEUROSCIENCE, 10(2016), 1-14 [10.3389/fncel.2016.00081].

Potassium channels and human epileptic phenotypes: An updated overview

VILLA, CHIARA
Primo
;
COMBI, ROMINA
Ultimo
2016

Abstract

Potassium (K+) channels are expressed in almost every cells and are ubiquitous in neuronal and glial cell membranes. These channels have been implicated in different disorders, in particular in epilepsy. K+ channel diversity depends on the presence in the human genome of a large number of genes either encoding pore-forming or accessory subunits. More than 80 genes encoding the K+ channels were cloned and they represent the largest group of ion channels regulating the electrical activity of cells in different tissues, including the brain. It is therefore not surprising that mutations in these genes lead to K+ channels dysfunctions linked to inherited epilepsy in humans and non-human model animals. This article reviews genetic and molecular progresses in exploring the pathogenesis of different human epilepsies, with special emphasis on the role of K+ channels in monogenic forms.
Articolo in rivista - Review Essay
Scientifica
Epilepsy; K+ channels; KCNT1; Kir channels; Kv channels; Mutation;
English
Villa, C., & Combi, R. (2016). Potassium channels and human epileptic phenotypes: An updated overview. FRONTIERS IN CELLULAR NEUROSCIENCE, 10(2016), 1-14 [10.3389/fncel.2016.00081].
Villa, C; Combi, R
File in questo prodotto:
File Dimensione Formato  
170453_Villa_ProvisionalPDF.pdf

accesso aperto

Tipologia di allegato: Author’s Accepted Manuscript, AAM (Post-print)
Dimensione 512.92 kB
Formato Adobe PDF
512.92 kB Adobe PDF Visualizza/Apri
publishe review.pdf

Solo gestori archivio

Tipologia di allegato: Publisher’s Version (Version of Record, VoR)
Dimensione 342.51 kB
Formato Adobe PDF
342.51 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/108364
Citazioni
  • Scopus 70
  • ???jsp.display-item.citation.isi??? 69
Social impact