Benign familial infantile epilepsy is a clinical syndrome that may be more common than is presently recognized.[ncbi.nlm.nih.gov]
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]
On the opposite side of the spectrum, the group of benign epilepsy syndromes presented in this book is clearly more prevalent in childhood than the intractable epilepsies.[books.google.de]
Benign (nonfamilial) infantile epilepsy presents in neurologically normal infants in the first year of life.[neupsykey.com]
There are several distinct forms that overlap in presentation but are distinguishable by several clinical, neurophysiologic, and genetic factors that will be reviewed here.[medlink.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.[rarediseases.info.nih.gov]
They may have focal aware seizures, (previously called simple partial seizures) often at night, which begin with a tingling feeling in the mouth, gurgling or grunting noises and dribbling.[epilepsysociety.org.uk]
[…] with the following 3 types of nocturnal seizures: Typical brief hemifacial seizures associated with speech arrest, drooling, and preservation of consciousness (identical to diurnal seizures) Seizures similar to those described above but with gurgling/grunting[emedicine.medscape.com]
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]
If the patient has the typical clinical history and EEG findings and has normal findings on neurologic examination, further workup is not indicated.[emedicine.medscape.com]
Treatment with anticonvulsant drugs is not necessary but they are often prescribed and are effective at controlling the seizures. This form of epilepsy resolves after one or two years, and appears to be completely benign.[en.wikipedia.org]
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]
Direct in style but comprehensive in content, with ample tables and summaries, the Handbook of Epilepsy Treatment covers: Treatment of the different forms and causes of epilepsy Treatment in the different commonly encountered clinical situations Treatment[books.google.de]
E for further details of pharmacological treatment.[nice.org.uk]
The subjects, from 11 families, were between the ages of 3 and 19 months and had normal neurodevelopmental status, a normal interictal electroencephalogram, a family history of similar seizures, and an excellent prognosis.[ncbi.nlm.nih.gov]
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]
Prognosis Most authors report a favorable prognosis. In a study of 69 affected individuals, seizures stopped by 6 weeks in 68% of cases.[emedicine.medscape.com]
Prognosis The prognosis for children with IS is largely dependent on the underlying cause. The intellectual prognosis for children with IS is generally poor because many babies with IS have neurological impairment prior to the onset of spasms.[childneurologyfoundation.org]
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]
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]
Etiology Seizures associated with early myoclonic encephalopathy can be due to a number of etiologies.[emedicine.medscape.com]
The world’s foremost experts describe the phenotypes and subtypes of myoclonic epilepsies and the underlying molecular defects and summarize cutting-edge advances in molecular genetics that shed new light on the etiologies of these syndromes.[books.google.ro]
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]
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]
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.[rarediseases.info.nih.gov]
Juvenile Absence Epilepsy Epidemiology The epidemiology has not been well studied, but juvenile absence epilepsy is less common than childhood absence epilepsy.[emedicine.medscape.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]
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]
Pathophysiology Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. These discharges arise from hyperexcitable neuronal networks.[emedicine.medscape.com]
Evidence for shared pathophysiologic mechanisms underlying the concurrence of benign infantile convulsions (IC) and of PKD in the same patients or families was obtained [ 8, 13 ].[mdpi.com]
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]
Research The NINDS supports broad and varied programs of research on epilepsy and other seizure disorders aimed at discovering new ways to prevent, diagnose, and treat these disorders.[childneurologyfoundation.org]
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]