Sentences with phrase «with epileptic encephalopathy»
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.
https://www.sciencedaily.com/
The discovery of CHD2 as the culprit gene in a subset of children with epileptic encephalopathy is a major step for us.»
Not exact matches
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.
«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.
Methods: A case series of 9 children were identified with a profound developmental and epileptic encephalopathy and SCN1A mutation.
Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.
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.