Background: Infantile spasms (IS) represent an age-specific epileptic disorder of infancy and early childhood. Children with infantile typically exhibit along the electroencephalographic (EEG) pattern known as roceededica. Although rare, 1.6 to 4.5 per 10,000 live births, IS is a significant because association developmental delay or regression, high mortality rate, refractoriness conventional ...

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the ‘‘classical’’ epileptic encephalopathies, infantil...

This article address efficient hardware implementations for multiplication over GF(2). Hardware implementations of multiplication algorithms are suitable for elliptic curve cryptoprocessor designs, which allow that elliptic curve based cryptosystems implemented in hardware provide more physical security and higher speed than software implementations. In this case, the multipliers were designed ...

Patients with early infantile epileptic encephalopathy (EIEE) experience severe seizures and cognitive impairment and are at increased risk for sudden unexpected death in epilepsy (SUDEP). EIEE13 [Online Mendelian Inheritance in Man (OMIM) # 614558] is caused by de novo missense mutations in the voltage-gated sodium channel gene SCN8A Here, we investigated the neuronal phenotype of a mouse mode...

Myiasis, the invasion of live human tissue by larva of Diptera, is reported in the nasal cavity of a 5.5-year-old Iranian girl. She was referred from Golestan Province to the Shaheed Rajaei Heart Center in Tehran. In the 41th day after admission, a live parasite was found in her nasal secretions suction identified presumably as a second instar larvae of a facultative myiasis, Woholfartia nuba (...

Munc18-1 is a critical component of the core machinery controlling neuroexocytosis. Recently, mutations in Munc18-1 leading to the development of early infantile epileptic encephalopathy have been discovered. However, which degradative pathway controls Munc18-1 levels and how it impacts on neuroexocytosis in this pathology is unknown. Using neurosecretory cells deficient in Munc18, we show that...

Infantile spasms are a catastrophic form of pediatric epilepsy with inadequate treatment. In patients, mutation of ARX, a transcription factor selectively expressed in neuronal precursors and adult inhibitory interneurons, impairs cell migration and causes a major inherited subtype of the disease X-linked infantile spasms syndrome. Using an animal model, the Arx((GCG)10+7) mouse, we determined ...

We perform a statistical analysis of the temporal structure of long GammaRay-Bursts (GRBs). First we consider a sample of bursts in which a long quiescent time is present. Comparing the pre-quiescence with the post-quiescence emission we show that they display similar temporal structures, hardness ratios and emitted powers, but, on the average, the post-quiescence emission is roughly twice as l...