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OBJECTIVE For about 30% of epilepsy patients, pharmaceutical therapy fails to control their seizures. MR-guided laser interstitial thermal therapy (MRgLITT) allows for real-time thermal monitoring of the ablation process and feedback control over the laser energy delivery. We report on minimally invasive surgical techniques of MRgLITT and short-term(More)
This chart review investigated the efficacy and safety of zonisamide in 45 patients aged < or = 18 years with absence seizures. Of these patients, 23 (51.1%) achieved freedom from absence seizures. Two patients discontinued zonisamide, 1 for increased seizures and 1 for sleepiness and inefficacy. These data support the efficacy of zonisamide in treating(More)
BACKGROUND Almost a third of patients with epilepsy have a treatment-resistant form, which is associated with severe morbidity and increased mortality. Cannabis-based treatments for epilepsy have generated much interest, but scientific data are scarce. We aimed to establish whether addition of cannabidiol to existing anti-epileptic regimens would be safe,(More)
This case series presents the outcomes of seven females with Rett syndrome and medically refractory epilepsy who were treated with adjunctive vagus nerve stimulation (VNS) therapy for a minimum of 12 months. Patients ranged in age from 1 to 14 years (median age 9 y) at the time of implantation, had experienced seizures for a median period of approximately 6(More)
Repetitive nerve stimulation (RNS) of the trapezius muscle at slow rates was performed on 192 patients with amyotrophic lateral sclerosis (ALS). Fifty-six patients (29%) showed classical neuromuscular decrement of 10-43% (mean 16.8%) while 44 patients (23%) had a borderline decrement of 5-9%. The trapezius was significantly more sensitive in revealing the(More)
The authors report a case of intracranial aspergillosis secondary to immunosuppression. Signal intensity changes in the lesion on brain MR are compared with gross and histopathologic findings at autopsy. A peripheral ring of low signal intensity relates to a dense population of Aspergillus hyphal elements and small areas of hemorrhage. CT findings are(More)
Hypothalamic hamartomas (HHs) present a difficult medical problem, manifested by gelastic seizures, which are often medically intractable. Although existing techniques offer modest surgical outcomes with the potential for significant morbidity, the relatively novel technique of magnetic resonance imaging (MRI)-guided stereotactic laser ablation (SLA) offers(More)
The underlying genetic etiology of rhabdomyolysis remains elusive in a significant fraction of individuals presenting with recurrent metabolic crises and muscle weakness. Using exome sequencing, we identified bi-allelic mutations in TANGO2 encoding transport and Golgi organization 2 homolog (Drosophila) in 12 subjects with episodic rhabdomyolysis,(More)
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, encoding transcriptional activator(More)
The authors evaluated zonisamide for symptomatic infantile spasms in 23 patients. Spasm cessation, EEG evolution, and tolerability were assessed for a mean duration of 6.5 months. Six patients (26%) had complete control with cessation of spasms and clearing of hypsarrhythmia. Mean latency time from onset of zonisamide treatment to complete spasm control was(More)