Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This report involves a patient suffering from focal epilepsy caused by an unruptured, intracranial aneurysm (UIA), and her treatment using intravascular embolisation, with an excellent postoperative outcome in terms of the epilepsy. A 52 year-old, right-handed woman had been suffering for three years from focal seizures, characterized by loss of consciousness, and oroalimentary and hand automatisms. The epilepsy was not controlled by carbamazepine monotherapy. Magnetic resonance imaging and digital subtraction angiography revealed a saccular aneurysm at the bifurcation of the middle cerebral artery, in contact with the cortex of the temporal opercular region. An intra-arterial embolisation, using a detachable, mechanical spiral (MDS, Bold Platinum), was performed, with no complications. The purpose of embolisation was the treatment of the aneurysm. The patient had two more, complex partial seizures (CPS) in the early postoperative period, but was seizure-free between September 1998 and September 2002. This is the first case report that presents the successful treatment of UIA-related epilepsy by means of intravascular embolisation.
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PMID:Unruptured intracranial aneurysm as a cause of focal epilepsy: an excellent postoperative outcome after intra-arterial treatment. 1507 67

While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of epilepsy. It is important to investigate the associations between specific chromosome abnormalities and features of epilepsy to identify genes involved in epilepsy and treat them more effectively. We investigated the correlation between specific chromosome aberrations and epilepsy by sending questionnaires to the members of Kyoto Multi-institutional Study Group of Pediatric Neurology. Seventy-six patients were collected from 10 institutions. Chromosome abnormalities included: Down syndrome (n = 19); Angelman syndrome (n = 8); Prader-Willi syndrome (n = 4); 4p- syndrome (n = 3); 1q- syndrome (n = 2); 5p- syndrome (n = 2); Miller-Dieker syndrome (n = 2); 18q- syndrome; (n = 2); Klinefelter syndrome; (n = 2); and 32 other individual chromosomal aberrations. Overall, the severity of mental retardation correlated with the severity of epilepsy. We could abstract characteristic features of epilepsy in some syndromes. In Angelman and Prader-Willi syndromes, febrile seizures occurred frequently, the onset of epilepsy was in early childhood and seizure phenotype was multiple. Paroxysmal discharge of the occipital region and diffuse high voltage slow wave on electroencephalography were characteristic in Angelman syndrome. In Down syndrome, West syndrome and focal epilepsy were common and the prognosis of epilepsy in West syndrome with Down syndrome was good. In 4p- syndrome, febrile seizures were often seen, and unilateral or generalized clonic or tonic-clonic status epilepticus were characteristic. For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy.
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PMID:Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy. 1566 53