The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

Francesco Nicita, Paola De Liso, Federica Rachele Danti, Laura Papetti, Fabiana Ursitti, Antonella Castronovo, Federico Allemand, Elena Gennaro, Federico Zara, Pasquale Striano, Alberto Spalice

Research output: Contribution to journalArticle

Abstract

The group of idiopathic epilepsies encompasses numerous syndromes without known organic substrate. Genetic anomalies are thought to be responsible for pathogenesis, with a monogenic or polygenic model of inheritance. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to particular idiopathic epilepsies and epileptic encephalopathies. Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with seizures. However non-ion channel proteins may also be affected. Correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic are improving classification, prognosis and counseling of patients and families with these forms of epilepsy, and may lead to targeted therapeutic approaches in the near future. In this article the authors have reviewed the main genetic discoveries in the field of the monogenic idiopathic epilepsies and epileptic encephalopathies, in order to provide epileptologists with a concise and comprehensive summary of clinical and genetic features of these seizure disorders.

Original languageEnglish
Pages (from-to)3-11
Number of pages9
JournalSeizure
Volume21
Issue number1
DOIs
Publication statusPublished - Jan 2012

Fingerprint

Brain Diseases
Epilepsy
Multifactorial Inheritance
Chloride Channels
Potassium Chloride
Sodium Channels
Potassium Channels
Genetic Association Studies
Ion Channels
Sodium Chloride
Counseling
Seizures
Proteins
Mutation

Keywords

  • Channels
  • Epilepsy
  • Epileptic encephalopathies
  • KCNQ
  • Monogenic
  • SCN1A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Nicita, F., De Liso, P., Danti, F. R., Papetti, L., Ursitti, F., Castronovo, A., ... Spalice, A. (2012). The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. Seizure, 21(1), 3-11. https://doi.org/10.1016/j.seizure.2011.08.007

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. / Nicita, Francesco; De Liso, Paola; Danti, Federica Rachele; Papetti, Laura; Ursitti, Fabiana; Castronovo, Antonella; Allemand, Federico; Gennaro, Elena; Zara, Federico; Striano, Pasquale; Spalice, Alberto.

In: Seizure, Vol. 21, No. 1, 01.2012, p. 3-11.

Research output: Contribution to journalArticle

Nicita, F, De Liso, P, Danti, FR, Papetti, L, Ursitti, F, Castronovo, A, Allemand, F, Gennaro, E, Zara, F, Striano, P & Spalice, A 2012, 'The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies', Seizure, vol. 21, no. 1, pp. 3-11. https://doi.org/10.1016/j.seizure.2011.08.007
Nicita, Francesco ; De Liso, Paola ; Danti, Federica Rachele ; Papetti, Laura ; Ursitti, Fabiana ; Castronovo, Antonella ; Allemand, Federico ; Gennaro, Elena ; Zara, Federico ; Striano, Pasquale ; Spalice, Alberto. / The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies. In: Seizure. 2012 ; Vol. 21, No. 1. pp. 3-11.
@article{09222dca6af74c6a93048b2b57f312d7,
title = "The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies",
abstract = "The group of idiopathic epilepsies encompasses numerous syndromes without known organic substrate. Genetic anomalies are thought to be responsible for pathogenesis, with a monogenic or polygenic model of inheritance. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to particular idiopathic epilepsies and epileptic encephalopathies. Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with seizures. However non-ion channel proteins may also be affected. Correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic are improving classification, prognosis and counseling of patients and families with these forms of epilepsy, and may lead to targeted therapeutic approaches in the near future. In this article the authors have reviewed the main genetic discoveries in the field of the monogenic idiopathic epilepsies and epileptic encephalopathies, in order to provide epileptologists with a concise and comprehensive summary of clinical and genetic features of these seizure disorders.",
keywords = "Channels, Epilepsy, Epileptic encephalopathies, KCNQ, Monogenic, SCN1A",
author = "Francesco Nicita and {De Liso}, Paola and Danti, {Federica Rachele} and Laura Papetti and Fabiana Ursitti and Antonella Castronovo and Federico Allemand and Elena Gennaro and Federico Zara and Pasquale Striano and Alberto Spalice",
year = "2012",
month = "1",
doi = "10.1016/j.seizure.2011.08.007",
language = "English",
volume = "21",
pages = "3--11",
journal = "Seizure : the journal of the British Epilepsy Association",
issn = "1059-1311",
publisher = "W.B. Saunders Ltd",
number = "1",

}

TY - JOUR

T1 - The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies

AU - Nicita, Francesco

AU - De Liso, Paola

AU - Danti, Federica Rachele

AU - Papetti, Laura

AU - Ursitti, Fabiana

AU - Castronovo, Antonella

AU - Allemand, Federico

AU - Gennaro, Elena

AU - Zara, Federico

AU - Striano, Pasquale

AU - Spalice, Alberto

PY - 2012/1

Y1 - 2012/1

N2 - The group of idiopathic epilepsies encompasses numerous syndromes without known organic substrate. Genetic anomalies are thought to be responsible for pathogenesis, with a monogenic or polygenic model of inheritance. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to particular idiopathic epilepsies and epileptic encephalopathies. Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with seizures. However non-ion channel proteins may also be affected. Correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic are improving classification, prognosis and counseling of patients and families with these forms of epilepsy, and may lead to targeted therapeutic approaches in the near future. In this article the authors have reviewed the main genetic discoveries in the field of the monogenic idiopathic epilepsies and epileptic encephalopathies, in order to provide epileptologists with a concise and comprehensive summary of clinical and genetic features of these seizure disorders.

AB - The group of idiopathic epilepsies encompasses numerous syndromes without known organic substrate. Genetic anomalies are thought to be responsible for pathogenesis, with a monogenic or polygenic model of inheritance. Over the last two decades, a number of genetic anomalies and encoded proteins have been related to particular idiopathic epilepsies and epileptic encephalopathies. Most of these mutations involve subunits of neuronal ion channels (e.g. potassium, sodium, and chloride channels), and may result in abnormal neuronal hyperexcitability manifesting with seizures. However non-ion channel proteins may also be affected. Correlations between genotype and phenotype are not easy to establish, since genetic and non-genetic factors are likely to play a role in determining the severity of clinical features. The growing number of discoveries on this topic are improving classification, prognosis and counseling of patients and families with these forms of epilepsy, and may lead to targeted therapeutic approaches in the near future. In this article the authors have reviewed the main genetic discoveries in the field of the monogenic idiopathic epilepsies and epileptic encephalopathies, in order to provide epileptologists with a concise and comprehensive summary of clinical and genetic features of these seizure disorders.

KW - Channels

KW - Epilepsy

KW - Epileptic encephalopathies

KW - KCNQ

KW - Monogenic

KW - SCN1A

UR - http://www.scopus.com/inward/record.url?scp=84355166679&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84355166679&partnerID=8YFLogxK

U2 - 10.1016/j.seizure.2011.08.007

DO - 10.1016/j.seizure.2011.08.007

M3 - Article

C2 - 21917483

AN - SCOPUS:84355166679

VL - 21

SP - 3

EP - 11

JO - Seizure : the journal of the British Epilepsy Association

JF - Seizure : the journal of the British Epilepsy Association

SN - 1059-1311

IS - 1

ER -