Sentences with phrase «progressive myoclonic»

More recently, the molecular basis for autosomal recessive progressive myoclonic epilepsy (Lafora disease) in the miniature wirehaired dachshund has been identified 34.

Following a Forward Genetics approach, Fleming researchers identified a novel neurological mouse model caused by a functional mutation in the Slc25a46 gene, a new pathogenic target in a wide spectrum of human neurological diseases, including optic atrophy, Charcot - Marie - Tooth type 2, Leigh syndrome, progressive myoclonic ataxia and lethal congenital pontocerebellar hypoplasia.

Not exact matches

However, this well - defined form of epilepsy (not idiopathic), which is characterized by myoclonic type seizures with rapid, progressive mental deterioration and polyglucosan intracellular inclusions 35, is clearly distinct from the form or forms of epilepsy observed in Irish wolfhounds and other breeds.

Lafora disease is a fatal, autosomal recessive, progressive, intractable myoclonic epilepsy and is recognized as one of the most aggressive and most severe forms of epilepsy.