genetic basis of epilepsy (course:neuropsychology)

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Genetic Basis of Epilepsy

Introduction

Statement of the Problem

Within the study , the primary task is to determine the significant genetical etiologies of the condition of epilepsy . With the relational focus between the occurrence of the condition and the physiological processes involved , the study determines the significant relationship of these genetic factors that causes or at least contributes to the occurrence of epilepsy in the perspective of neuropsychology Considering different components that influence the manifestations of epilepsy , the

study takes into account the possible factors contributing to their occurrences . The study aims to determine the relationship of etiology against physiological factors in an effort to see possible linkage between these two pathophysiological components

Goals of the Study

The goal of the study is to answer the main inquiry focusing on epilepsy and its linkage in the genetic factors that causes the manifestation of the condition . At the end of the study , the following inquiries should be answered appropriately (a ) how does genetic character of an individual influence the occurrence of epilepsy (b What are the genetic codes responsible for its occurrence and the process that links the overall physiological response

Background of the Study

The condition of Generalized Epilepsy with Febrile Seizure Plus (GEFS is a known prominent heterogeneous autosomal dominant dis that is present in family members under genetic influence . Such condition is characterized by multiple epilepsy phenotypes , which comprises of mycolonic , general tonic-clonic or partial seizures , and manifestation of febrile seizures as well . The mutations in voltage-gated sodium channel (VGSC ) have been linked to the occurrence of idiopathic epilepsy (Kamiya et .al . 2004 . The general manifestations of GEFS are febrile seizures that possessed epileptic character . As according to assessments , patients with the said condition manifest severe deterioration of psychomotor development .According to the studies made (Barela et .al 2006 Kamiya et .al 2004 Spampanato et .al 2001 , the genes that contribute to the occurrence of GEFS are SCN1A , SCN2A and SCN1B and neurotransmitter gene class GABAa receptors . In addition , Barela et al (2006 ) added the assessment obtained from families with identified GEFS , which provided gene subunits , namely GABRG2 and GABRD , present in these families . The most prominent gene to cause the manifestations of GEFS is SCN1A , which is one of the nine paralogous genes in mammalian genome . The mutation on D1866Y of SCN1A had been considered as one of the main processes to initiate the febrile seizure manifestation . From the physiological perspective , a positive displacement of VDSC deactivates quickly , which endeavors possible case of hyperexcitablity (Spampanato et .al . 2004 . According to Barela et . al (2006 , the condition of GEFS can manifest febrile seizures beyond six years of age and can originate under simple to complex phenotypes . Hence , in this study , the center focuses more on the genetic basis of GEFS and the contributing factors that cause its occurrence . Since the study 's primary task is to determine the relationship between genetics and the pathological condition , these variables are analyzed mainly...