What are the other Names for this Condition? (Also known as/Synonyms)

• Early Infantile Epileptic Encephalopathy 14 (EIEE14)
• Malignant Migrating Partial Epilepsy of Infancy
• Migrating Partial Seizures in Infancy

What is Malignant Migrating Partial Seizures of Infancy? (Definition/Background Information)

• Malignant Migrating Partial Seizures of Infancy (MMPSI) is a severe form of epilepsy, a condition characterized by recurrent seizures. In MMPSI, specifically, partial seizures generally begin shortly after birth and are often not responsive to treatment
• Although the seizures may occur relatively infrequently in the beginning, within a few months the frequency increases dramatically with some affected people experiencing clusters of 5 to 30 seizures several times per day
• Signs and symptoms associated with these episodes vary based on which part of the brain is affected during a given seizure
• Although the seizures associated with Malignant Migrating Partial Seizures of Infancy do eventually become less frequent, the long-term consequences of the condition may include profound developmental delay, microcephaly(unusually small head size), intellectual disability and a shortened lifespan (many do not survive past infancy or early childhood)
• Although the underlying cause of Malignant Migrating Partial Seizures of Infancy is not fully understood, de novo mutations in certain genes have been identified in several affected people and are thought to be involved in the development of the condition. Even when a genetic cause is identified, most cases of MMPSI occur sporadically in people with no family history of the condition
• Treatment is generally focused on minimizing recurrent seizures. Unfortunately, the seizures associated with Malignant Migrating Partial Seizures of Infancy are usually not well-controlled with medications that are typically prescribed to treat epilepsy

(Source: Malignant Migrating Partial Seizures of Infancy; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets Malignant Migrating Partial Seizures of Infancy? (Age and Sex Distribution)

• Malignant Migrating Partial Seizures of Infancy is a rare condition, with just about 100 cases reported in the medical literature
• The onset of disease symptoms typically at birth or in infancy
• Both genders may be affected by this disorder
• Worldwide, all populations may be affected

What are the Risk Factors for Malignant Migrating Partial Seizures of Infancy? (Predisposing Factors)

• A positive family history may be an important risk factor, since Malignant Migrating Partial Seizures of Infancy can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Malignant Migrating Partial Seizures of Infancy? (Etiology)

The causes of Malignant Migrating Partial Seizures of Infancy are not completely known.

• The condition may be caused by mutation(s) in the KCTN1 gene, since many affected individuals have changes in this gene
• Mutation(s) in several other genes may be involved in the development of this disorder as well
• In most cases, the disorder is not inherited, and occurs sporadically in individuals with no family history of the condition

What are the Signs and Symptoms of Malignant Migrating Partial Seizures of Infancy?

The signs and symptoms of Malignant Migrating Partial Seizures of Infancy may include:

• Cerebral cortical atrophy
• Clonus 
• Epileptic encephalopathy 
• Generalized hypotonia
• Gliosis             
• Hypoplasia of the corpus callosum 
• Microcephaly            
• Neuronal loss in central nervous system 
• Spasticity            
• Status epilepticus
• Tetraplegia

Occasionally present symptoms in 5-29% of the cases include poor eye contact.

(Source: Malignant Migrating Partial Seizures of Infancy; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Other signs and symptoms may include:

• Drooling
• Twitching
• Sudden warmth during seizures
• Apnea
• Jerking of the whole body or limbs

How is Malignant Migrating Partial Seizures of Infancy Diagnosed?

Malignant Migrating Partial Seizures of Infancy is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Malignant Migrating Partial Seizures of Infancy?

The complications of Malignant Migrating Partial Seizures of Infancy may include:

• Severe growth and development delays
• Developmental regression (loss of skills gained during development)
• Weak neck muscles and inability to hold the head up
• Inability to walk
• Delay in development of speech
• Severe intellectual deficiency

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Malignant Migrating Partial Seizures of Infancy Treated?

There is no cure for AMalignant Migrating Partial Seizures of Infancy, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can Malignant Migrating Partial Seizures of Infancy be Prevented?

• Malignant Migrating Partial Seizures of Infancy may not be preventable, since it is a genetic disorder
• Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Malignant Migrating Partial Seizures of Infancy? (Outcomes/Resolutions)

• The prognosis of Malignant Migrating Partial Seizures of Infancy is poor, due to the severity of signs and symptoms
• Many of those affected succumb to the disorder in infancy or early childhood
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Malignant Migrating Partial Seizures of Infancy:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/