Eight drugs to be trialled for genetic epilepsy syndrome

Researchers at the University of South Australia are to trial a number of drugs as potential treatment for children with the genetic epilepsy syndromes malignant migrating focal seizures of infancy (MMFSI).

Professor Leanne Dibbens will lead a trial of eight potential therapies in children with MMPSI, which is caused by mutations in KCNT1, a gene responsible for regulating neuron activity in the CNS.

“We will be investigating a range of FDA-approved drugs that have been identified to limit the effects of the potassium gene mutation, and in this way, we hope to identify a high potential drug to treat this type of severe epilepsy,” she said.

“Children with MMPSI are very unwell, suffering multiple seizures every day. The disorder affects brain development, which means these children also have very impaired motor skills and severe intellectual disabilities.

Professor Dibbens said quinidine had already been trialled in a number of children, but with little improvement, so there was an acute need for new drugs to treat children with KCNT1 mutations.

Endovascular therapy for large infarction strokes

Endovascular therapy may have benefit in acute stroke patients with large infarctions despite concerns that bleeding will occur in the area of infarction after reperfusion, a Japanese study shows.

 In trial involving 203 patients with large ischaemic regions of acute stroke ( ASPECTS value of 3 to 5), those randomised to endovascular therapy had better functional outcomes at 90 days (a modified Rankin scale score of 0 to 3) compared with those who received standard medical care alone

The findings, published in the NEJM also showed that endovascular therapy was associated with an increased incidence of any intracranial haemorrhage at 48 hours (58.0% vs. 31.4%; relative risk 1.85; P<0.001), but there was no significant difference between groups in symptomatic intracranial haemorrhage within 48 hours or in deaths at 90 days.

Cluster headaches diagnoses delayed for years 

Delays in diagnosing cluster headaches are leaving people in excruciating pain for year, according to neurologist Dr Jason Ray of the Alfred Hospital in Melbourne.

In an article in Australian Prescriber, Dr Ray says people with recurrent headaches should be encouraged to seek specialist help as early as possible and be provided with a treatment plan that offers evidence-based options

Dr Ray says patients can be offered a range of treatments from short-term therapies such as triptans and high-flow oxygen, longer-term preventive approaches such as verapamil, and bridging treatments such as prednisolone.

“People are often living with cluster headache for years before they get diagnosed and start treatment. There are effective treatments out there, so it is important to seek help and no longer suffer in silence,” he said.