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)

Intensive neuromonitoring of seizure surgery candidates, with its associated medication withdrawal, involves increased seizure susceptibility. This can cause a confusing array of seizure patterns. This problem was examined in the candidates for seizure surgery in the Austin Hospital Comprehensive Epilepsy Programme, emphasis being placed on focal seizures. Generalized seizures were very common. Eleven (15%) patients showed multiple focal seizure patterns. Seven patients showed temporal lobe seizures originating from either side separately. Three showed persistent frontal and temporal complex partial seizures. One patient showed 2 separate species of focal epilepsy. Whilst the simplest and most effective way out of this diagnostic problem was close consultation and video review with parent or spouse, this process was ineffective in 6 of 11 patients. In patients with bitemporal lobe epilepsy there was often little to distinguish the fit coming from one side from that coming from the other and often elements of the fit from either side were recognized by the relative. In all patients with frontal and temporal complex partial seizures, elements of the seizure had been seen previously and in only 1 was there any preponderance on neuromonitoring. Therefore it is suspected that the confusing seizure detail seen on intensive neuromonitoring may in fact exist in real life and render the clinical history suspect--a problem which can be avoided only by initial neuromonitoring.
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PMID:Intensive neuromonitoring for complex partial seizures: focal seizure pattern variability in surgical patients. 311 58

Almost ten years have passed since the identification of Kv7.2 and Kv7.3, the genes altered in benign familial neonatal seizures (BFNS), a familial autosomal dominant focal epilepsy of the newborn. Despite the rarity of the disease, clinical and genetic data have been gathered from more than 50 BFNS-affected families; these studies reveal that each family harbours a specific disease-causing mutation, and that the mutation-induced functional changes range from a subtle alteration in channel behaviour to a complete ablation of channel function. Prompted by the recent identification of peculiar gating changes in Kv7.2 subunits caused by novel mutations responsible for BFNS, in the present work we attempt to link, whenever possible, the specific genetic defect with the clinical evolution of the disease in the affected families on one side, and, on the other, with the functional defects revealed by expression studies. Such genotype-phenotype correlations may provide clues on the pathogenesis of the wide variety of neuropsychiatric manifestations often associated to BFNS, and should foster our attempts to gain more detailed functional information which might help to elucidate the pathogenetic mechanisms of the disease.
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PMID:Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations. 1869 50