Sentences with phrase «of epileptic encephalopathy»
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.
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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.
Epileptic encephalopathy is a rare but devastating sub-form of epilepsy that results in severe mental and physical disabilities in children from birth.
«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.
The discovery of CHD2 as the culprit gene in a subset of children with epileptic encephalopathy is a major step for us.»
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.
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.
«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.
We implemented a rare variant transmission disequilibrium test (TDT) to search for autosomal recessive epileptic encephalopathy genes in a cohort of 320 outbred patient - parent trios that were generally prescreened for rare metabolic disorders.
Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation.
65/4: 00 Functional analysis of GRIN2A mutations in childhood epileptic encephalopathies.
66/4: 15 Hyperexcitability of neurons and cardiomyocytes in a mouse model of SCN8A epileptic encephalopathy.
Epileptic encephalopathies of the Landau - Kleffner and continuous spike and waves during slow - wave sleep types: genomic dissection makes the link wi...