The researchers found that loss of Nav1.1 channels was sufficient to cause the epilepsy and premature death seen in Dravet syndrome.The timing of the first signs and symptoms in Dravet syndrome occur about the same time as normal childhood vaccinations, leading some to believe the vaccine was the cause. However, this is likely a non-specific response to fever, as vaccination often induces fever, and fever is known to be associated with seizures in persons with Dravet syndrome. Some of the patients who put forth vaccine injury claims from encephalopathy were later found, upon testing, to actually have Dravet syndrome. Genetics
The genotypic explanation of the disorder has been located on the specific voltage-gated sodium channel genes known as SCN1A and SCN2A. These genes are located on the long (q) arm of chromosome 2 at position 24.3 and code for the alpha subunit of the transmembrane sodium channel protein. A mutation in either of these two genes will cause an individual to develop dysfunctional sodium channels, which are crucial in the pathway for sending chemical signals in the brain, causing the phenotypic display of myoclonic epilepsy from the individual. A properly functioning channel would respond to a voltage difference across the membrane and form a pore through which only sodium ions can pass. The influx of sodium induces the generation of action potential by temporarily changing the charge of the cell.
Potts puffy tumor, first described by Sir Percivall Pott in 1760, is a rare clinical entity characterized by subperiosteal abscess associated with osteomyelitis. It is characterized by an osteomyelitis of the frontal bone, either direct or through haematogenic spread. This results in a swelling on the forehead, hence the name. The infection can also spread inwards, leading to an intracranial abscess. Potts puffy tumor can be associated with cortical vein thrombosis, epidural abscess, subdural empyema, and brain abscess. The cause of vein thrombosis is explained by venous drainage of the frontal sinus, which occurs through diploic veins, which communicate with the dural venous plexus; septic thrombi can potentially evolve from foci within the frontal sinus and propagate through this venous system. This type of chronic osteomyelitis of the frontal bone is confused with acute sub-periosteal abscess of the frontal bone, which presents as a discrete collection over the frontal sinus. Although it can affect all ages, it is mostly found among teenagers and adolescents. It is usually seen as a complication of frontal sinusitis or trauma. Medical imaging can be of use in the diagnosis and evaluation of the underlying cause and extent of the condition. Ultrasound is able to identify frontal bone osteomyelitis, while computed tomography (CT) can evaluate bony erosion, and along with magnetic resonance imaging (MRI), can better appreciate the underlying cause and extent of possible intra-cranial extension/involvement. Cause
Frontal sinusitis, acute or chronic. Frontal trauma, usually blunt. Some cases have been seen in a context of intranasal substance abuse (cocaine, methamphetamine).