Sentences with phrase «cause epileptic encephalopathy»

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.

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.

«Gene discovered to cause rare, severe neurological disease: Epileptic encephalopathy linked to protein trafficking gene.»

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.

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