Epilepsia partialis continua (EPC) is a rare form of focal status epilepticus. It may have vascular, immune-mediated, neoplastic or metabolic-toxic causes. The origin of EPC has been linked with the motor cortex. This has been solidly supported by sophisticated electrophysiological studies. Here, a series of video sequences from patients with EPC (due to Rasmussen encephalitis, early-stage mult...

A 6 year old Portuguese boy with dilated cardiomyopathy had abundant ragged red fibres in muscle (20% of total) and severe lactic acidosis. Molecular genetic analysis showed the A to G transition in the mitochondrial transfer RNALeu(UUR) gene at nt 3243 ("MELAS mutation"), which accounted for 88% and 68% of the total mtDNA in his muscle and blood, respectively. Molecular studies in blood from 1...

MERRF syndrome (or Myoclonic Epilepsy with Ragged Red Fibers) is a mitochondrial disease maternally-inherited. In this progressive disorder, status epilepticus is common and highly resistant to treatment including generalized anesthesia. We report two cases with Merrf syndrome (sister and brother), presented with status epilepticus refractory even to Thiopental, Propofol and Midazolam. In the s...

The authors describe a family (mother, son and two daughters) with mitochondrial myopathy. The mother was asymptomatic. Two daughters had lactic acidosis and myoclonic epilepsy, mild dementia, ataxia, weakness and sensory neuropathy. The son suffered one acute hemiplegic episode due to an ischemic infarct in the right temporal region. All the patients studied had hypertension. EEG disclosed pho...

In this paper we describe how MAP inference can be used to sample efficiently from Gibbs distributions. Specifically, we provide means for drawing either approximate or unbiased samples from Gibbs’ distributions by introducing low dimensional perturbations and solving the corresponding MAP assignments. Our approach also leads to new ways to derive lower bounds on partition functions. We demonst...