What causes ohtahara syndrome?

Ohtahara syndrome is classically caused by very abnormal brain structure that may be due to damage or abnormal development. It also can be due to metabolic disorders or genetic epilepsy syndromes, although the cause or causes for many cases can’t be determined.

Is ohtahara syndrome curable?

There are several treatment options used to manage Ohtahara syndrome, but there is not a cure. These treatments can help reduce the frequency and severity of the seizures, but they are not effective in managing developmental problems.

What is SCN8A epilepsy life expectancy?

Epilepsy in children with SCN8A variant mutation causing EIEE13 is lifelong and resistant to medications. Epilepsy in children with SCN8A variant mutation causing BFIS5, in general, stops by 2 years of age.

Is Lennox-Gastaut syndrome genetic?

Genetics of Lennox-Gastaut syndrome Some genes that can cause LGS include pathogenic variants in CDKL5, DNM1, STXBP1, or SCN2A. However, over 50 individual genes have been identified so far. In most cases a single gene is affected.

Is ohtahara syndrome rare?

This is a very rare epilepsy syndrome. Seizures start before 3 months of age. Many babies have an underlying structural brain abnormality or a metabolic (biochemical) disorder.

What is ohtahara?

Ohtahara syndrome is a rare epilepsy syndrome seen in infants. It is also known as early infantile epileptic encephalopathy (EIEE) or early infantile epileptic encephalopathy with burst suppression pattern. Seizures begin before age 3 months.

What is the life expectancy of a child with West syndrome?

West syndrome is generally not life-threatening but it occurs more often in children with life-threatening conditions. Furthermore, the treatments used for West syndrome can (rarely) cause death. As a result, only 5 out of every 100 children diagnosed with West syndrome will not survive beyond the age of five years.

What causes SCN8A?

SCN8A encephalopathy is caused by genetic changes in the SCN8A gene. Inheritance is autosomal dominant, but most people with SCN8A encephalopathy have a new genetic change in the gene that was not inherited from a parent.

How is ohtahara syndrome diagnosed?

The EEG is the most important test in making a diagnosis of Ohtahara syndrome. The EEG is very abnormal with a burst suppression pattern (high amplitude spikes followed by little brain activity or flattening of the brain waves).

How common is ohtahara syndrome?

Epidemiology. Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Approximately 100 cases total have been reported but this may be an underestimate. since OS neonates with early death may escape clinico-EEG diagnosis. Male cases slightly predominate those of females.

Can West syndrome go away?

There is no cure for West syndrome, so unfortunately, the only treatment is to reduce symptoms. West syndrome treatments usually include a course of prednisolone and/or an anti-epileptic medication. In a few individuals, surgery in the brain may help reduce symptoms.

How serious is West syndrome?

Babies with West syndrome usually have mental disabilities or trouble learning later in life, but up to 1 in 5 will have typical mental skills or only mild mental disabilities. About 7 in 10 babies with West syndrome have severe mental disabilities.

What does SCN8A stand for?

sodium voltage-gated channel alpha subunit 8.