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Myoclonic Epilepsy, Juvenile - Metabolism
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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)

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Sunday, November 22, 2009

Are personality traits of juvenile myoclonic epilepsy related to frontal lobe dysfunctions? A proton MRS study.

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...


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 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...

 

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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

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