Sentences with phrase «epileptic encephalopathy»
"epileptic encephalopathy" refers to a condition where epilepsy (recurring seizures) affects the brain's normal function and development. It may result in intellectual or developmental disabilities. Full definition
Individuals with epileptic encephalopathy caused by mutations in DENND5A present with serious anomalies in brain structure along with calcifications in the brain and altered facial features.
sciencedaily.com
Compound heterozygous mutations in UBA5 causing early - onset epileptic encephalopathy in two sisters.
The scientists from the Montreal Neurological Institute and Hospital at McGill University, led by Peter McPherson, along with collaborators in Saudi Arabia, Jordan, Germany, and at SickKids Hospital and the University of Toronto, have discovered that a severe form of epileptic encephalopathy is caused by recessive loss - of - function mutations in the gene DENND5A.
The observation that loss - of - function mutations in DENND5A causes epileptic encephalopathy suggests that DENND5A protein controls membrane trafficking pathways critical for normal neuronal development and strengthens the argument that protein trafficking processes in cells are critical for normal neuronal development and function.
Mutations that detrimentally affect the function of neuronal KV7 channels cause hyperexcitability syndromes such as benign familial neonatal seizures, early onset epileptic encephalopathy, and peripheral nerve hyperexcitability.
Researchers performed whole exome sequencing on three children with epileptic encephalopathy from two families, one from Saudi Arabia and another from Jordan.
«Gene discovered to cause rare, severe neurological disease: Epileptic encephalopathy linked to protein trafficking gene.»
«Taken together, our results suggest that SCN8A mutations in people with early - infantile epileptic encephalopathy may increase the risk of SUDEP by creating an environment in which the heart has a higher susceptibility to arrhythmias,» explains author Chad Frasier, Ph.D., a postdoctoral researcher at the University of Michigan.
It is difficult to say how many children with epileptic encephalopathy have the DENND5A mutations, but now that the gene has been identified as a cause, researchers around the world can begin to test patients for mutations in this gene.
The protein expressed from the DENND5A gene is present at highest levels in the nervous system especially while the brain is developing, corroborating the evidence that mutations in the gene cause epileptic encephalopathy.
«We were able to identify the specific genetic change that led to epileptic encephalopathy in 32 per cent of our subjects, which is quite remarkable,» said Michaud.
Epilepsy affects approximately three per cent of the world population, and epileptic encephalopathy is a rare sub-form of the disease.
Epileptic encephalopathy is a rare but devastating sub-form of epilepsy that results in severe mental and physical disabilities in children from birth.
Researchers from the University of Michigan set out to explore whether genetic mutations in voltage-gated Na + channels (VGSCs), which promote the transmission of electrical impulses in the heart and brain, increase the risk of SUDEP in patients with early - infantile epileptic encephalopathy.
A third study (abstract 2.052 A. 08) pinpoints a specific genetic mutation that may raise the risk of SUDEP in patients with early - infantile epileptic encephalopathy — a severe, drug - resistant disorder that manifests in the first 3 months of life.
Ingo Helbig adds that «the epileptic encephalopathies pose a major clinical problem as most children have treatment - resistant epilepsy, intellectual disability and many other medical issues.
The discovery of CHD2 as the culprit gene in a subset of children with epileptic encephalopathy is a major step for us.»
A recent study by Michaud examining 200 children with epileptic encephalopathy — epilepsy combined with intellectual or overall developmental disability — and their parents could lead to the development of a more rational anti-epileptic treatment strategy.
A new study examining 200 children with epileptic encephalopathy — epilepsy combined with intellectual or overall developmental disability - identified eight new genes involved in this type of epilepsy thanks to their use of whole - genome sequencing, which had never been done before in an epileptic study of this scope.
They also suggested that SCN1A p.Thr1174Ser would be considered as a factor potentially changing the phenotypes of the epileptic encephalopathies, caused by other mutations in the SCN1A, ARX or PCDH19.
Epileptic encephalopathies of the Landau - Kleffner and continuous spike and waves during slow - wave sleep types: genomic dissection makes the link wi...