Epileptic Encephalopathy, Early Infantile

What is Epileptic Encephalopathy, Early Infantile?

Also known as Ohtahara syndrome, this rare disease presents with infantile spasms. These spasms and seizures usually occur in the days following birth, and the syndrome is usually apparent in an affected individual before the first year of life.

What gene changes cause Epileptic Encephalopathy, Early Infantile?

Changes in the following genes are associated with causing the syndrome: ARX, CDKL5, SLC25A22, STXBP1, SPTAN1, KCNQ2, ARHGEF9, PCDH19, PNKP, SCN2A, PLCB1, SCN8A, ST3GAL3, TBC1D24, BRAT1. Although this list is growing all the time, with 94 genes currently identified as responsible for causing the syndrome.

Brain malformations, or damage can also cause the syndrome.

What are the main symptoms of Epileptic Encephalopathy, Early Infantile?

The main symptom of the syndrome is seizures. The seizures come in many different types, but generally those associated with the syndrome tend to happen just after an affected individual has woken up, and they force bending at the waist and neck, then stretching to the arms and legs. They can last for a few seconds, or in some cases a few minutes. Some individuals are affected by more than a hundred in a day. Generally their severity and frequency worsens with age, and some individuals also develop epilepsy and related conditions.As the seizures worsen, so too do the intellectual disability and motor issues also associated with the syndrome. The spasms associated with the syndrome do not respond to anti-seizure medicine.

The life expectancy for someone with the syndrome is not high. Those who survive the first two years of life, tend to have severe cognitive and physical disabilities.

How does someone get tested for Epileptic Encephalopathy, Early Infantile?

The initial testing for Epileptic Encephalopathy, Early Infantile can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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