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)

The present prospective study undertaken in a specialized neurological center of a developing country deals with 1,000 epileptic patients classified in accordance with the International Classification. Eighty-one percent of the patients could be classified, with a lower incidence in the younger age group. Partial epilepsy was found to be far more common than generalized epilepsy (80% versus 20%). Primary generalized epilepsy was seen in 15% and secondary generalized in 5%. Partial epilepsy with elementary symptomatology was seen in 58% and complex symptomatology in 7%. Secondarily generalized seizures were seen in the remaining 15%. Primary generalized epilepsy and partial epilepsy with complex symptomatology were more common in adults. Secondary generalized epilepsy and partial epilepsy with secondarily generalized seizures were more common in children. Partial epilepsy with elementary symptomatology, however, did not vary significantly with age. The higher incidence of partial epilepsy in our patients, compared to the West, could be due to greater frequency of CNS infections and birth injuries, which are common childhood hazards in the developing countries.
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PMID:Profile of epilepsy in a developing country: a study of 1,000 patients based on the international classification. 41 69

Successful treatment of idiopathic generalized epilepsy begins with accurate seizure classification. Seizure types, such as absence, myoclonic, and primary generalized tonic-clonic seizures (PGTCS), often can be classified based on a detailed history and inter-ictal electroencephalogram (EEG). Ideally, patients can be classified into specific epilepsy syndromes, such as childhood absence epilepsy, juvenile myoclonic epilepsy (JME), or generalized tonic-clonic seizures on awakening. Idiopathic generalized epilepsy should be distinguished from focal epilepsy with rapid secondary generalization. If this distinction is not clear after history, physical examination, and routine inter-ictal EEG, then ambulatory EEG, video EEG monitoring, or neuroimaging studies may be needed. Ethosuximide, valproate, or lamotrigine are all appropriate first-line choices in the treatment of childhood absence epilepsy. The specific medication should be chosen based on the side effect profiles, dosing formulations, and titration schedules of the medications. The available evidence best supports valproate as the first-line choice in the treatment of JME, although lamotrigine and topiramate may be appropriate choices in this setting. More data specific to JME are needed to clarify the role of medications such as levetiracetam and zonisamide in the treatment of JME. The available evidence to guide the treatment of PGTCS is limited, because most trials did not rigorously exclude patients with focal epilepsy with rapid secondary generalization. Available evidence suggests that valproate is an appropriate first-line choice for PGTCE. Lamotrigine or topiramate also may be appropriate choices. More data are needed to clarify the role of levetiracetam and zonisamide in the treatment of PGCTS. If it is unclear whether a patient has idiopathic generalized epilepsy or focal epilepsy with secondary generalization, then a broad-spectrum anticonvulsant, including valproate, lamotrigine, or topiramate, should be considered. More data are needed to support the broad-spectrum efficacy of levetiracetam and zonisamide.
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PMID:Idiopathic Generalized Epilepsy. 1504 6

Intracortical disinhibitory mechanisms play a crucial role in epilepsy. Therefore, the recruitment of motor cortical excitability was evaluated to distinct between focal and generalized epileptic syndromes. Twenty-five untreated patients with epilepsy and 20 controls were enrolled. Classification into focal (FE, n=10) or idiopathic generalized (IGE, n=15) epilepsy was based on seizure semiology, EEG and MRI. The recruitment of motor cortical inhibition and facilitation was measured by varying the stimulus intensity (SI) of the first conditioning stimulus in a paired-pulse transcranial magnetic stimulation (TMS) paradigm producing stimulus-response (S-R) curves of intracortical excitability. S-R curves were then compared with other commonly used TMS measures of cortical excitability [cortical silent period (CSP) and motor threshold (MT)]. In patients with IGE, inhibition occurred only at higher conditioning SIs compared to patients with focal epilepsy and controls. Recruitment of inhibition was unchanged in patients with focal epilepsy compared to controls. Recruitment of facilitation (ICF), CSP duration and MT, were not different between patients with FE or IGE or between patients and controls. These results suggest that the recruitment for motor cortical inhibition in patients with IGE is less effective. This may reflect a disturbed access to or an increased threshold of inhibitory neurons within the motor cortex. Impaired recruitment of inhibition might be a helpful parameter to access cortical excitability in newly diagnosed patients with generalized or focal epilepsy.
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PMID:Recruitment of motor cortex inhibition differentiates between generalized and focal epilepsy. 1928 51

We studied 279 women, aged 18-40 years old, with epilepsy. The study included the evaluation of anamnesis, clinical and neurological examination, routine EEG and/or video-EEG-monitoring, MRI of the brain. The period of observation was 6 months - 8 years. Idiopathic generalized epilepsy (IGE) was diagnosed in 85 cases, cryptogenic focal epilepsy in 107 cases, symptomatic focal epilepsy in 51 cases, unclassified epilepsy in 32 cases. In the end of study, remission was achieved in 70.8% of patients of the IGE group, the substantial reduction in the number of seizures was identified in 13.8%, no effect was seen in 15.4%. Adverse events were found in 22 of 63 (34.9%) patients treated with valproates, 9 of 25 (36%) patients treated with topiramate, 5 of 39 (1.8%) patients treated with carbamazepine, 3 of 7 (42.9%) patients treated with levetiracetam and in 2 of 5 (40%) patients treated with lamotrigine. The aggravation of absences with carbamazepine was diagnosed in 2 cases, myoclonic seizures - in 2 cases. Therapeutic strategies of young women with juvenile forms of IGE were described and analyzed.
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PMID:[Idiopathic generalized epilepsy in young women: choise of treatment strategy]. 2298 42

We studied 479 epileptic patients. The study included the evaluation of anamnesis, clinical and neurological examination, routine EEG and/or video-EEG-monitoring, MRI of the brain. The period of observation was 1-8 years (on average 2.5 years). Idiopathic generalized epilepsy was diagnosed in 55 cases, cryptogenic focal epilepsy in 228 cases and symptomatic focal epilepsy in 196 cases. In the end of study, remission was achieved in 29.2%, the serious reduction in the number of seizures in 31.7%, no effect was seen in 39.1%. There were 261 attempts of therapy with carbamazepine (CBZ), 298 with valproates (VPA), 173 with topiramate (TPM), 48 with levetiracetam (LEV), 18 with lamotrigine (LTG), 23 with benzodiazepines (BDZ), 62 with barbiturates (BRB), 3 with ethosuximide (ESM), 15 with oxcarbazepine (OXC), 1 with lacosamide (LAS) and 8 with phenytoin (PHT). The total efficacy (remission plus seizure reduction) was similar for VPA (48%), TPM (47.4%) and CBZ (44.5%). Stopping treatment due to adverse effects was significantly higher in TPM (12,1%) versus LEV (4,2%) (p<0,05).
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PMID:[Efficacy of epilepsy treatments with different drugs]. 2323 10

Partial deletions of the RBFOX1 gene encoding the neuronal splicing regulator have been reported in a range of neurodevelopmental diseases including idiopathic/genetic generalized epilepsy (IGE/GGE), childhood focal epilepsy, and self-limited childhood benign epilepsy with centrotemporal spikes (BECTS, rolandic epilepsy), and autism. The protein regulates alternative splicing of many neuronal transcripts involved in the homeostatic control of neuronal excitability. Herein, we examined whether structural deletions affecting RBFOX1 exons confer susceptibility to common forms of juvenile and adult focal epilepsy syndromes. We screened 807 unrelated patients with sporadic focal epilepsy, and we identified seven hemizygous exonic RBFOX1 deletions in patients with sporadic focal epilepsy (0.9%) in comparison to one deletion found in 1,502 controls. The phenotypes of the patients carrying RBFOX1 deletions comprise magnetic resonance imaging (MRI)-negative epilepsy of unknown etiology with frontal and temporal origin (n = 5) and two patients with temporal lobe epilepsy with hippocampal sclerosis. The epilepsies were largely pharmacoresistant but not associated with intellectual disability. Our study extends the phenotypic spectrum of RBFOX1 deletions as a risk factor for focal epilepsy and suggests that exonic RBFOX1 deletions are involved in the broad spectrum of focal and generalized epilepsies.
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PMID:Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy. 2617 48

Purpose. To determine the diagnostic yield and utility of STVEEG with verbal suggestion in diagnosis of patients presenting with transient unresponsiveness and suspected psychogenic nonepileptiform seizures. Methods. A retrospective analysis of STVEEG records of patients with transient unresponsiveness and suspected PNES between 1 Jan 2009 and 28 Feb 2014 was done. Results. Amongst 155 patients [38 males, 117 females], with mean age 32 [8-67], PNES were identified in 109 [70.3%], focal epilepsy was identified in 24 [15.4%], and actual seizure was recorded in 7 [4.5%]. Nine [5.8%] patients were found to have both epilepsy and PNES. Primary generalized epilepsy was diagnosed in 2 [1.2%]. A diagnosis of other paroxysmal nonepileptiform events [tachyarrhythmia and heart block] was done in 3 [1.9%]. A normal EEG and no inducible episode and hence an uncertain diagnosis at the end of STVEEG were seen in only 17 [10.9%] patients. A STVEEG of approximately one hour duration was able to establish the diagnosis in 138 [89.1%] patients with transient unresponsiveness. Conclusion. STVEEG with verbal suggestion is a useful and cost effective diagnostic test for diagnosis of PNES. It can be a good modality for diagnosis in patients with transient abnormalities in sensorium in the outpatient settings in developing countries.
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PMID:Role of Short Term Video Encephalography with Induction by Verbal Suggestion in Diagnosis of Suspected Paroxysmal Nonepileptic Seizure-Like Symptoms. 2798 Aug 65