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)

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

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