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.