Sentences with phrase «epileptic encephalopathy in»

Compound heterozygous mutations in UBA5 causing early - onset epileptic encephalopathy in two sisters.

«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.

Not exact matches

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.

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.

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.»

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.

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.

They have found the genetic defect in some neurologic diseases such as Border Terrier's leukoid encephalopathy, Ridgebacks that start with twitching, and syndromic epilepsy, a neonatal epilepsy in Standard Poodle but there had been so much pleomorphism in epileptic dog's GWASP.