[Genes and epilepsy I: epilepsy and genetic alterations]. / Genes e epilepsia I: epilepsia e alterações genéticas.
Rev Assoc Med Bras (1992)
; 54(3): 272-8, 2008.
Article
in Pt
| MEDLINE
| ID: mdl-18604408
ABSTRACT
INTRODUCTION:
Epilepsy is a neurological disorder characterized by spontaneous and recurrent seizures with an estimated prevalence of 2-3 % in the world population. Epileptic seizures are the result of paroxystic and hypersynchronous electrical activity, preferentially in cortical areas, caused by panoply of structural and neurochemical dysfunctions. Recent advances in the field have focused on the molecular mechanisms involved in the epileptogenic process.OBJECTIVES:
In the present review, we describe the main genetic alterations associated to the process of epileptogenesis and discuss the new findings that are shedding light on the molecular substrates of monogenic idiopathic epilepsies (MIE) and on genetically complex epilepsies (GCE). RESULTS ANDCONCLUSION:
Linkage and association studies have shown that mutations in ion channel genes are the main causes of MIE and of predisposition for GCE. Moreover, mutations in genes involved in neuronal migration, glycogen metabolism and respiratory chain are associated to other syndromes involving seizures. Therefore, different gene classes contribute to the epileptic trait. The identification of epilepsy-related gene families can help us understand the molecular mechanisms of neuronal hyperexcitability and recognize markers of early diagnosis as well as new treatments for these epilepsies.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Polymorphism, Single Nucleotide
/
Epilepsy
/
Mutation
Type of study:
Prognostic_studies
/
Risk_factors_studies
/
Screening_studies
Limits:
Humans
Language:
Pt
Journal:
Rev Assoc Med Bras (1992)
Year:
2008
Document type:
Article