Epileptic Encephalopathy, Early Infantile

What is Epileptic Encephalopathy, Early Infantile?

Epileptic encephalopathies, Early Infantile are a group of rare genetic disorders consisting of seizures (all types, but predominantly tonic seizures, and spasms), with electroencephalographic changes, and they may be refractory to treatment. Age of onset is often before the first year of life and usually occurs in the days following birth.

This syndrome is also known as:
Epilepsy-Infantile; Epileptic Encephalopathy

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, 118 genes are currently identified as responsible for causing the syndrome.

All types of inheritance have been described.

What are the main symptoms of Epileptic Encephalopathy?

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 worsen 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.

Possible clinical traits/features:
Intellectual disability, Psychosis, Generalized non-motor (absence) seizure, Aggressive behavior, Atonic seizure, X-linked inheritance, Infantile onset, Status epilepticus, Global developmental delay, Focal-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure.

How is it diagnosed?

To find out if someone has a diagnosis of Epileptic Encephalopathy, Early Infantile, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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