Alpha [11C] Methyl-l-tryptophan positron emission tomography in epilepsy

Advances in positron emission tomography (PET) techniques have allowed the measurement and imaging of serotonin synthesis, transport and receptor binding in the living human brain. Both the imaging and pathological studies in patients with epilepsy, as well as studies derived from experimental models of epilepsy provide evidence that endogenous serotonin plays a significant role in epileptogenesis. This review summarizes the advances in alpha- Methyl tryptophan PET imaging in patients with different types of epilepsy.Advances in positron emission tomography (PET) techniques have allowed the measurement and imaging of serotonin synthesis, transport and receptor binding in the living human brain. Both the imaging and pathological studies in patients with epilepsy, as well as studies derived from experimental models of epilepsy provide evidence that endogenous serotonin plays a significant role in epileptogenesis. This review summarizes the advances in alpha-Methyl tryptophan PET imaging in patients with different types of epileps

Alpha [11C] Methyl-l-tryptophan positron emission tomography in epilepsy

Advances in positron emission tomography (PET) techniques have allowed the measurement and imaging of serotonin synthesis, transport and receptor binding in the living human brain. Both the imaging and pathological studies in patients with epilepsy, as well as studies derived from experimental models of epilepsy provide evidence that endogenous serotonin plays a significant role in epileptogenesis. This review summarizes the advances in alpha- Methyl tryptophan PET imaging in patients with different types of epilepsy.Advances in positron emission tomography (PET) techniques have allowed the measurement and imaging of serotonin synthesis, transport and receptor binding in the living human brain. Both the imaging and pathological studies in patients with epilepsy, as well as studies derived from experimental models of epilepsy provide evidence that endogenous serotonin plays a significant role in epileptogenesis. This review summarizes the advances in alpha-Methyl tryptophan PET imaging in patients with different types of epileps

Research conference summary from the 2014 International Task Force on

OBJECTIVE: METHODS: In 2014, the Alternating Hemiplegia of Childhood Foundation hosted a multidisciplinary workshop intended to address fundamental challenges surrounding the diagnosis and management of individuals with RESULTS: Workshop attendees were charged with the following: (1) to achieve consensus on expanded diagnostic criteria to facilitate the identification of additional patients, intended to supplement existing syndrome-specific diagnostic paradigms; (2) to standardize definitions for the broad range of paroxysmal manifestations associated with AHC to disseminate to families; (3) to create clinical recommendations for common recurrent issues facing families and medical care providers; (4) to review data related to the death of individuals in the Alternating Hemiplegia of Childhood Foundation database to guide future efforts in identifying at-risk subjects and potential preventative measures; and (5) to identify critical gaps where we most need to focus national and international research efforts. CONCLUSIONS: This report summarizes recommendations of the workshop committee, highlighting the key phenotypic features to facilitate the diagnosis of possibl

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

BACKGROUND:Despite progress in understanding the genetics of rare epilepsies, the more common epilepsies have proven less amenable to traditional gene-discovery analyses. We aimed to assess the contribution of ultra-rare genetic variation to common epilepsies. METHODS:We did a case-control sequencing study with exome sequence data from unrelated individuals clinically evaluated for one of the two most common epilepsy syndromes: familial genetic generalised epilepsy, or familial or sporadic non-acquired focal epilepsy. Individuals of any age were recruited between Nov 26, 2007, and Aug 2, 2013, through the multicentre Epilepsy Phenome/Genome Project and Epi4K collaborations, and samples were sequenced at the Institute for Genomic Medicine (New York, USA) between Feb 6, 2013, and Aug 18, 2015. To identify epilepsy risk signals, we tested all protein-coding genes for an excess of ultra-rare genetic variation among the cases, compared with control samples with no known epilepsy or epilepsy comorbidity sequenced through unrelated studies. FINDINGS:We separately compared the sequence data from 640 individuals with familial genetic generalised epilepsy and 525 individuals with familial non-acquired focal epilepsy to the same group of 3877 controls, and found significantly higher rates of ultra-rare deleterious variation in genes established as causative for dominant epilepsy disorders (familial genetic generalised epilepsy: odd ratio [OR] 2·3, 95% CI 1·7-3·2, p=9·1 × 10-8; familial non-acquired focal epilepsy 3·6, 2·7-4·9, p=1·1 × 10-17). Comparison of an additional cohort of 662 individuals with sporadic non-acquired focal epilepsy to controls did not identify study-wide significant signals. For the individuals with familial non-acquired focal epilepsy, we found that five known epilepsy genes ranked as the top five genes enriched for ultra-rare deleterious variation. After accounting for the control carrier rate, we estimate that these five genes contribute to the risk of epilepsy in approximately 8% of individuals with familial non-acquired focal epilepsy. Our analyses showed that no individual gene was significantly associated with familial genetic generalised epilepsy; however, known epilepsy genes had lower p values relative to the rest of the protein-coding genes (p=5·8 × 10-8) that were lower than expected from a random sampling of genes. INTERPRETATION:We identified excess ultra-rare variation in known epilepsy genes, which establishes a clear connection between the genetics of common and rare, severe epilepsies, and shows that the variants responsible for epilepsy risk are exceptionally rare in the general population. Our results suggest that the emerging paradigm of targeting of treatments to the genetic cause in rare devastating epilepsies might also extend to a proportion of common epilepsies. These findings might allow clinicians to broadly explain the cause of these syndromes to patients, and lay the foundation for possible precision treatments in the future. FUNDING:National Institute of Neurological Disorders and Stroke (NINDS), and Epilepsy Research UK

Convulsive Pseudoseizures: A Review of Current Concepts

Convulsive pseudoseizures thought to represent psychiatric disease can usually be detected early if they are considered in the epileptologist's differential diagnosis. No single diagnostic criterion for this behavioural disorder is known to be pathognomonic. Epilepsy and all physiological explanations have to be thoroughly ruled out and positive evidence of relevant psychopathology has to be gathered. The presence of pseudo seizures often heralds severe psychopathology, most frequently major affective disorder and major personality disorder, and occasionally, factitious disorder. Pseudoseizures can coexist with epileptic seizures and are often triggered by anticonvulsant toxicity. Diagnostic problems are more likely to be encountered in patients with frontal or parietal epilepsies, and in patients whose severe psychopathology is refractory to psychiatric intervention

Czernowitz Memoirs 1900-1940

In this family history from Czernowitz (Cernăuţi, Romania), Frederick Andermann recounts details of his family members, their relaionship to one another, and life in Czernowitz. Frederick includes information about the local government and cultural aspects of the city and its people.digitizedFrederick Andermann was born in 1930 in Cernăuţi, Romania (now Chernivtsi, Ukraine). In 1940 he fled to Suceava where he stayed for two months, and then to Bucharest. He came to Vienna after the war in 1949, and he emigrated via Geneva and Paris to Montreal, Canada where he currently lives as a neurologist.Austrian Heritage CollectionDr. Frederick Anderman

Long-term efficacy and safety of piracetam in the treatment of progressive myoclonus epilepsy

Background: Piracetam has been proven to be effective and well tolerated in the treatment of myoclonus in short-term studies