Presentation
Benign (nonfamilial) infantile epilepsy presents in neurologically normal infants in the first year of life. [neupsykey.com]
In this chapter, we describe the wide clinical spectrum associated with PRRT2 mutations and present the current hypotheses on the underlying pathophysiology. [moh-it.pure.elsevier.com]
Patients present with motor arrest, unresponsiveness, head and/or eye deviation to one side, staring, fluttering of eyelids, grunting, cyanosis, diffuse hypertonia and unilateral or bilateral clonic jerks of the limbs. [orpha.net]
This study differed from the present one since it presented lower casuistry and an elevated level of learning disabilities. [scielo.br]
Entire Body System
- Family History of Arthritis
및 기타 만성적 하부 호흡기 질환의 가족력(Family history of asthma and other chronic lower respiratory diseases) J40-J47에 분류되는 병태(Conditions classifiable to J40-J47) Z82.6 관절염 및 기타 근골격계 및 결합조직 질환의 가족력(Family history of arthritis and other diseases of the musculoskeletal [dic.impact.pe.kr]
- Family History of Deafness
history of blindness and visual loss) H54.- 에 분류되는 병태(Conditions classifiable to H54.-) Z82.2 귀머거리 및 청력상실의 가족력(Family history of deafness and hearing loss) H90-H91에 분류되는 병태(Conditions classifiable to H90-H91) Z82.3 뇌졸중의 가족력(Family history of stroke) [dic.impact.pe.kr]
Psychiatrical
- Ganser Syndrome
심인성 귀머거리(Psychogenic deafness) F44.7 혼합형 해리[전환] 장애(Mixed dissociative [conversion] disorders)(F44.0-F44.6에 분류된 장애의 복합) F44.8 기타 해리[전환]장애(Other dissociative [conversion] disorders) 간저 증후군(Ganser's syndrome) 다중 인격증(Multiple personality) 심인성 혼돈(Psychogenic [dic.impact.pe.kr]
Workup
EEG is required to distinguish myoclonic seizures from nonictal causes of myoclonus, which can arise from lesions of the cortex, brainstem, spinal cord, or even peripheral nerve (see Workup). [emedicine.medscape.com]
Treatment
Tonic or atonic seizures First-line treatment: offer sodium valproate as first-line treatment. Adjunctive treatment: offer lamotrigine as adjunctive treatment if first-line treatment with sodium valproate is ineffective or not tolerated. [patient.info]
Management and treatment With anti-epileptic treatment (e.g. carbamazepine, valproate, phenobarbital), symptoms quickly disappear and no other type of epilepsy has been reported to reappear. [orpha.net]
E for further details of pharmacological treatment. [nice.org.uk]
Elucidating the molecular pathways linking the genetic defect to its clinical expression will improve treatment of these disorders. [moh-it.pure.elsevier.com]
Prognosis
Prognosis The prognosis depends heavily on the underlying etiology and the epilepsy syndrome. Patients with a benign syndrome typically respond well to medication and may outgrow their epilepsy. [emedicine.medscape.com]
AIM: To study the frequency, semiology and prognosis of benign infantile epilepsy. [ncbi.nlm.nih.gov]
Etiology
These seizures are likely also linked in some way to ion channel dysfunction as is found in the familial seizures, but they may be caused by multiple etiologies or occur as a multigenomic entity. [37, 38, 39] These sorts of multifactorial etiologies are [emedicine.medscape.com]
Herein, the involvement of the SCN1B gene in the etiology of BFIE, contributing to the disease phenotype as a modifier or part of an oligogenic predisposition, is shown for the first time. Copyright © 2017 European Paediatric Neurology Society. [ncbi.nlm.nih.gov]
According to ILAE 2010 Etiology Type of Seizures Gender Vaccination Age at Vaccination (mon) Children with vaccination-related seizure onset Genetic Sotos syndrome Multiple simple FS Male MMR 15.5 Genetic Down syndrome Atypical seizure Male dh1 3.0 Genetic [pediatrics.aappublications.org]
Epidemiology
[…] of Epilepsy Chapter 6: Epileptogenic Cerebral Cortical Malformations Chapter 7: Exploring the Epilepsiome I: Genetics of Age-Dependent Epileptic Encephalopathies Chapter 8: Exploring the Epilepsiome II: Approaching the Complex Epilepsies SECTION II: Epidemiology [connect.springerpub.com]
Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.ro]
The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.de]
Summary Epidemiology Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown. In an Argentinian case series, BFIE have been listed as the third most common type of epilepsy in the first two years of life. [orpha.net]
Pathophysiology
In this chapter, we describe the wide clinical spectrum associated with PRRT2 mutations and present the current hypotheses on the underlying pathophysiology. [moh-it.pure.elsevier.com]
The first section of the book introduces the clinical aspects of the science of epileptology with chapters on pathophysiology, genetics, classification, syndromes, epidemiology, etiology, and differential diagnosis. [books.google.de]
As a result, chloride is efficiently pumped from the intracellular milieu, GABA begins to exert its conventional inhibitory action, and the primitive pattern is replaced by more diverse and elaborate patterns of activity. [34] The pathophysiology of benign [emedicine.medscape.com]
Add to Favorites Permissions Contents Untitled Contributors Preface SECTION I: Basic Mechanisms Chapter 1: Pathophysiology of Seizures in the Developing Brain Chapter 2: Ion Channels, Membranes, and Molecules in Epilepsy and Neuronal Excitability Chapter [connect.springerpub.com]
Prevention
Genetic causes are not directly preventable. Causes are more often preventable as the infant or young child grows older. [childneurologyfoundation.org]
While this condition can be easily controlled by medication, it impacts on quality of life and may prevent people from participating in some activities. [news-medical.net]
Prevention There is no known way to prevent the onset of seizure disorders, but seizures may be controlled and sometimes prevented by the use of medication. [healthofchildren.com]
In addition, parents should also be aware that these drugs may prevent recurrences but do not alter the long-term prognosis for attaining seizure remission. [aafp.org]