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Myoclonic Epilepsy, Juvenile - Metabolism
Research News and Information
Definition of 'Myoclonic Epilepsy, Juvenile'A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323) |
Sunday, November 22, 2009
9 Mar 2009
PURPOSE: Personality traits characterized by emotional instability and immaturity, unsteadiness, lack of discipline, hedonism, frequent and rapid mood changes, and indifference toward one's disease have been associated with patients who have ... Read more...
Magnetic resonance spectroscopy reveals an epileptic network in juvenile myoclonic epilepsy.
10 Feb 2009
PURPOSE: To investigate the cerebral metabolic differences between patients with juvenile myoclonic epilepsy (JME) and normal controls and to evaluate to what extent these metabolic alterations reflect involvement of an epileptic network. METHODS: ... Read more...
17 Jun 2008
Human EFHC1 is a member of the EF-hand superfamily of Ca(2+)-binding proteins with three DM10 domains of unclear function. Point mutations in the EFHC1 gene are related to juvenile myoclonic epilepsy, a fairly common idiopathic generalized epilepsy. ... Read more...
Latest indexed articles for 'Myoclonic Epilepsy, Juvenile - Metabolism'
These are the very latest articles for this heading:
- Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study.
9 Mar 2009 - Magnetic resonance spectroscopy reveals an epileptic network in juvenile myoclonic epilepsy.
10 Feb 2009 - Characterization of the C-terminal half of human juvenile myoclonic epilepsy protein EFHC1: dimer formation blocks Ca2+ and Mg2+ binding to its functional EF-hand.
17 Jun 2008 - Reduced dopamine transporter binding in patients with juvenile myoclonic epilepsy.
5 May 2008 - Proton magnetic resonance spectroscopy study of bilateral thalamus in juvenile myoclonic epilepsy.
25 Mar 2007 - The relationship of regional frontal hypometabolism to executive function: a resting fluorodeoxyglucose PET study of patients with epilepsy and healthy controls.
16 May 2006 - Correlation of interictal spike-wave with thalamic glucose metabolism in juvenile myoclonic epilepsy.
30 Jul 2005 - No association of anti-GM1 and anti-GAD antibodies with juvenile myoclonic epilepsy: a pilot study.
29 Jun 2005 - Regional reductions in serotonin 1A receptor binding in juvenile myoclonic epilepsy.
30 May 2005 - The mouse ortholog of EFHC1 implicated in juvenile myoclonic epilepsy is an axonemal protein widely conserved among organisms with motile cilia and flagella.
29 Jan 2005 - The juvenile myoclonic epilepsy GABA(A) receptor alpha1 subunit mutation A322D produces asymmetrical, subunit position-dependent reduction of heterozygous receptor currents and alpha1 subunit protein expression.
14 Jun 2004 - Homocarnosine and seizure control in juvenile myoclonic epilepsy and complex partial seizures.
25 Mar 2001
See a longer list of these articles.
Technical information about 'Myoclonic Epilepsy, Juvenile'
Definition: A disorder characterized by the onset of myoclonus in adolescence, a marked increase in the incidence of absence seizures (see EPILEPSY, ABSENCE), and generalized major motor seizures (see EPILEPSY, TONIC-CLONIC). The myoclonic episodes tend to occur shortly after awakening. Seizures tend to be aggravated by sleep deprivation and alcohol consumption. Hereditary and sporadic forms have been identified. (From Adams et al., Principles of Neurology, 6th ed, p323)
Descriptor UI: D020190
Alternative terms: Myoclonic Epilepsy, Juvenile; Epilepsies, Juvenile Myoclonic; Epilepsy, Juvenile Myoclonic; Juvenile Myoclonic Epilepsies; Myoclonic Epilepsies, Juvenile; Impulsive Petit Mal, Janz; Janz Syndrome; Syndrome, Janz; Juvenile Myoclonic Epilepsy; Petit Mal, Impulsive, Janz; Janz Impulsive Petit Mal; Janz Juvenile Myoclonic Epilepsy; Juvenile Myoclonic Epilepsy of Janz; JME (Juvenile Myoclonic Epilepsy); JMEs (Juvenile Myoclonic Epilepsy); Myoclonic Epilepsy, Adolescent; Adolescent Myoclonic Epilepsies; Adolescent Myoclonic Epilepsy; Epilepsies, Adolescent Myoclonic; Epilepsy, Adolescent Myoclonic; Myoclonic Epilepsies, Adolescent; Epilepsy, Myoclonic, Juvenile; Impulsive Petit Mal Epilepsy;
Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; congenital; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;
Tree Number: C10.228.140.490.250.670;
History Note: 2000