Sentences with phrase «myoclonic epilepsy»

Two related potassium (K +) channel defects in benign familial neonatal convulsions (BFNC) have recently been identified.9 10 A defect in a receptor for a different neurotransmitter (acetylcholine) has previously been identified in a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) 11, which was later shown to affect calcium (Ca +) movement.12 In humans, so far, there has not been any success in identifying genes associated with more common primary epilepsy syndromes such as juvenile absence epilepsy and juvenile myoclonic epilepsy (JME).13 No gene or marker linked to an epilepsy gene has been identified in any dog breed, as yet.

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.

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

New structures discovered within cilia show a relationship between certain proteins and juvenile myoclonic epilepsy.

This treatment has been shown to be successful in treating a wide range of seizure types and syndromes (references 1, 2, 3) although may be particularly beneficial in myoclonic epilepsies, infantile spasms and tuberous sclerosis complex (reference 4).

Not exact matches

This study indicates microstructural damage of the cerebellar white matter in familial cortical myoclonic tremor with epilepsy.

Doose syndrome, also known as myoclonic astatic epilepsy (MAE) or epilepsy with myoclonic - atonic seizures, is a rare type of generalised epilepsy that was first described in 1970 (1).

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.