Epilepsy with Myoclono-Astatic Crisis

Overview

Type of disease: Rare conditions

Epilepsy with myoclono-astatic crisis also known as myoclonic-astatic epilepsy or MAE, is a rare epilepsy syndrome seen in children. It is characterized by multiple different seizure types, including myoclonic-astatic (involuntary jerking or sudden falls), generalized tonic-clonic or “grand mal” (“classic,” with convulsions), and absence seizures (vacant stare/loss of thought).

Symptoms of MAE include developmental delay pre-onset of seizures, the three types of seizures previously mentioned, and possible impulsivity and aggression. Cognitive impairment may also be seen in those with MAE, although it has been observed in varying degrees of severity.

Onset of MAE typically occurs during the first 5 years of life, and it is more common in boys than girls. Although the exact causes are unknown, MAE has been linked to many genetic mutations, including those of the SLC6A1, SCN1A, SCN1B, and GABRG2 genes. The modes of inheritance for these genes are largely autosomal dominant. This means only one parent needs the mutant gene in order to pass it onto their offspring.

Diagnosis of MAE is based on occurrence of myoclonic-astatic seizures and other seizures in children under approximately 5 years of age. A brain scan to check for brain electrical activity, such as an EEG, may also be done to detect abnormalities during seizures.

The goal of MAE treatment is seizure management. Antiepileptic drugs are often used to help treat the condition in addition to a management plan created with your doctor. The outcome of MAE is variable. MAE may completely disappear after several years, or varying degrees of intellectual disability may occur as a result.

If you you or a family member have been diagnosed with MAE, speak with your doctor to learn more information. Support groups may also be available for further resources.

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