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Epilepsy - Genetics
Research News and Information
Definition of 'Epilepsy'A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) |
Sunday, November 22, 2009
Gene expression analysis on anterior temporal neocortex of patients with intractable epilepsy.
30 Oct 2009 
To elucidate the molecular basis of intractable epilepsy (IE), we used a whole-genome transcriptomic approach to identify genes involved in the pathogenesis of this disease. Using a complementary DNAs microarray representing 4096 human genes, we ... Read more...
Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+.
18 Oct 2009 BACKGROUND: Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome with extremely variable expressivity. Mutations in 5 genes that raise susceptibility to GEFS+ have been discovered, but they account for only a small ... Read more...
29 Sep 2009 BACKGROUND AND OBJECTIVE: Carbamazepine (CBZ) is metabolized mainly by the CYP3A family of enzymes, which includes CYP3A4 and CYP3A5. Several studies have suggested that the CYP3A5*3 genotype influences the pharmacokinetics of CYP3A substrates. The ... Read more...
Latest indexed articles for 'Epilepsy - Genetics'
These are the very latest articles for this heading:
- Gene expression analysis on anterior temporal neocortex of patients with intractable epilepsy. 30 Oct 2009
- Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation.
30 Oct 2009 - Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. 30 Oct 2009
- Novel susceptibility locus at chromosome 6q16.3-22.31 in a family with GEFS+. 18 Oct 2009
- Effect of CYP3A5*3 genotype on serum carbamazepine concentrations at steady-state in Korean epileptic patients. 29 Sep 2009
- Prediction by modeling that epilepsy may be caused by very small functional changes in ion channels. 29 Sep 2009
- From human tissue to animal models: Insights into the pathogenesis of cortical dysplasia. 29 Sep 2009
- Loss of dendritic HCN1 subunits enhances cortical excitability and epileptogenesis. 31 Aug 2009
- Intra-familial incidence and characteristics of hot water epilepsy. 30 Aug 2009
- Neurologic aspects of MECP2 gene duplication in male patients. 30 Aug 2009
- Epilepsy spectrum in cerebral creatine transporter deficiency. 30 Aug 2009
- Making sense of nonsense GABA(A) receptor mutations associated with genetic epilepsies. 29 Aug 2009
- Clinical Centers of Excellence: Seizure disorders. Massachusetts General Hospital Epilepsy Service. 5 Aug 2009
- The EAST syndrome and KCNJ10 mutations. 4 Aug 2009
- Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 30 Jul 2009
- Clinical evaluation and diagnosis of severe epilepsy syndromes of early childhood. 30 Jul 2009
- Advances in the identification and management of severe epilepsy syndromes of early childhood: focus on SCN1A. 30 Jul 2009
- Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. 30 Jul 2009
- Na VPA-induced acute ischemic stroke in an epileptic patient with methylenetetrahydrofolate reductase gene polymorphism. 28 Jul 2009
- AGC1 deficiency associated with global cerebral hypomyelination. 28 Jul 2009
See a longer list of these articles.
Technical information about 'Epilepsy'
Definition: A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313)
Descriptor UI: D004827
Alternative terms: Epilepsy; Epilepsies; Seizure Disorder; Seizure Disorders; Seizures, Epileptic; Epileptic Seizures; Epileptic Seizure; Seizure, Epileptic; Single Seizure; Seizure, Single; Seizures, Single; Single Seizures; Epilepsy, Cryptogenic; Cryptogenic Epilepsies; Cryptogenic Epilepsy; Epilepsies, Cryptogenic; Aura; Auras; Awakening Epilepsy; Epilepsy, Awakening;
Related Mesh Headings: Seizures;
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;
Technical Notes: GEN or unspecified; prefer specifics