The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. [ncbi.nlm.nih.gov]

ORPHA:352582 Synonym(s): FIME Familial infantile myoclonus epilepsy Prevalence: Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: G40.3 OMIM: 605021 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]

Acronym FIME Synonyms EIM Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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]

[…] infancts-toddlers) Frequent and diverse epileptic seizures Usually generalized – myoclonic components Per definition: negative influence on development Epilepsy is almost always a symptom of an underlying severe neurological disease: Extensive diagnostic workup [opleid.info]

The diagnosis of a particular seizure type, and of a specific type of epilepsy (epilepsy syndrome), directs the diagnostic workup of these patients and their initial therapy. [ncbi.nlm.nih.gov]

There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis. [books.google.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Drug treatment has been effective on GTCSs in subjects III‐3, III‐4, III‐5, and III‐6, but drug suspension is followed by new attacks. [onlinelibrary.wiley.com]

There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis. [books.google.de]

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]

 An epileptic disorder characterized by a cluster of signs and symptoms customarily occurring together; these include type of seizure, etiology, anatomy, precipitating factors, age of onset, severity, chronicity, diurnal and circadian cycling and prognosis [slideshare.net]

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]

[…] a gene mutation involved in autosomal-recessive idiopathic epilepsy, unveiled the involvement of ARF6-dependent molecular pathway in brain hyperexcitability and seizures, and confirmed the emerging role of subtle cytoarchitectural alterations in the etiology [ncbi.nlm.nih.gov]

The idiopathic, symptomatic, or cryptogenic etiology remains undefined in the latter form. [onlinelibrary.wiley.com]

In some cases, no etiology is found and there is a family history of epilepsy. Method: The authors screened SCN1A in 24 patients with SMEI and 23 with IS. [neurology.org]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.de]

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

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]

Epidemiology The incidence of myoclonic epilepsy is approximately 1 case in 40,000 children. Typically, the onset of these disorders is during the first 3 years of life. [emedicine.medscape.com]

The author presents clinical and EEG manifestations, epidemiology, pathophysiology, differential diagnosis, and management of this rather benign early onset idiopathic myoclonic epilepsy. [medlink.com]

Pathophysiology Myoclonic seizures are generally the product of hypersynchronous, generalized cortical discharges. These discharges arise from hyperexcitable neuronal networks. [emedicine.medscape.com]

The author presents clinical and EEG manifestations, epidemiology, pathophysiology, differential diagnosis, and management of this rather benign early onset idiopathic myoclonic epilepsy. [medlink.com]

An overview is presented of pathophysiology, classification and measurement of spasticity and of its treatment, especially with dantrolene and ... - 41% Result found by: CompuServe Anneheleen van Leeuwen LinkedIn Summary. [chronischziekzijn.nl]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

AEDs are used to prevent recurrent seizures. [stlukes-stl.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]

This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease. He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.ro]

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]