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]

• Periodontitis

  […] osmolality environment. 61 Rentschler AE...Schwan WR 23175504 2013 33 Pleiotropic roles of uvrY on biofilm formation, motility and virulence in uropathogenic Escherichia coli CFT073. 61 Mitra A...Mukhopadhyay S 23383333 2013 34 [FimA fimbriae of the periodontal [malacards.org]

• Suggestibility

  This observation combined with recent data from the literature, suggest that mutations in TBCD24 cause a pathological continuum, with FIME at the "benign" end and severe drug-refractory epileptic encephalopathy on the severe end. [ncbi.nlm.nih.gov]

  Conclusions: The rate of SCN1A mutations in this cohort of SMEI patients suggests that other factors may be important in SMEI. [neurology.org]

  IEs include common disorders with a complex mode of inheritance and rare Mendelian traits suggesting the occurrence of several alleles with variable penetrance. [scipers.com]

• Ataxia

  (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia. [books.google.de]

  […] infantile myoclonic epilepsy Disease definition A rare, genetic, infantile epilepsy syndrome disease characterized by neonatal- to infancy-onset myoclonic focal seizures occurring in various members of a family, associated in some with mild dysarthria, ataxia [orpha.net]

  Action myoclonus, tonic-clonic seizures, progressive neurologic decline, and ataxia. Early-infantile epileptic encephalopathy 16 (EIEE16). [ncbi.nlm.nih.gov]

  Diseases related with Ataxia and Generalized myoclonic seizures In the following list you will find some of the most common rare diseases related to Ataxia and Generalized myoclonic seizures that can help you solving undiagnosed cases. [mendelian.co]

• Neurologic Manifestation

  Progressive neurological manifestations include seizures from infancy, optic atrophy, and peripheral polyneuropathy. {ECO:0000269 PubMed:24291220}. Note The disease is caused by mutations affecting the gene represented in this entry. [genecards.org]

  manifestations For SCN1A related Dravet syndrome / GEFSP2 / familial hemiplegic migraine: Treatment Some sodium channel agents such as phenytoin, carbamazepin and lamotrigine should be avoided Management Monitoring and management of progressive changes [swisscheckup.com]

• Profound Intellectual Disability

  All affected boys had moderate to profound intellectual disability. Hyperreflexia was observed in obligate carrier women. [neurology.org]

  The group of genetic epilepsies has a wide phenotypic spectrum, ranging from mild treatable seizure disorders in individuals with normal cognition to severe early-onset epileptic encephalopathies (EEs) associated with profound intellectual disability [karger.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]

[…] 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]

• Polyspike-and-Slow-Waves

  Prolonged IPS induced synchronous eyelid myoclonias (b) and finally a burst of high‐voltage polyspike‐and‐slow wave complexes over the occipital regions (c). [onlinelibrary.wiley.com]

  […] and slow-wave complexes.  Variable course and outcome.  One half experience encephalopathic effects and suffer from persistent GTCS, myoclonic-atonic status and dementia. 20. [slideshare.net]

• EEG Normal

  Inter-ictal EEG Normal. Ictal EEG Generalized polyspike or spike and slow-wave discharges. [epilepsy.com]

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]