Rare Epilepsy

Dravet Syndrome

Dravet syndrome (DS) is a rare epilepsy syndrome caused mostly by a mutation in the SCN1A gene. It is a lifelong condition that begins in infancy or early childhood and can include a spectrum of signs and symptoms including seizures. Children with DS typically develop normally their first few years and initially experience convulsive seizures that start before 15 months.

The initial seizures tend to be prolonged and involve one side of the body, then may be followed by seizures that switch to the other side of the body. Status epilepticus, which is a state of continuous seizure that requires emergency medical care, frequently occurs. As severity and frequency of seizures increase, a child’s development begins to lag behind that of similarly aged children. In addition to seizures, individuals with DS may experience changes in appetite, eating, balance, and begin walking with a crouched gait.

Lennox-Gastaut Syndrome

Lennox-Gastaut syndrome (LGS) is a severe form of epilepsy, with seizures that can begin in early childhood. LGS may be caused by an inherited genetic condition or by a variety of other conditions, including severe head injuries, perinatal asphyxia, or infections of the central nervous system. The majority of people living with LGS experience some developmental delays, behavioral disturbances, and impaired intellectual functioning or information processing.

People living with LGS can have multiple types of seizures. While these may vary among individuals, some of the more common types of seizures include tonic seizures which are characterized by body stiffening and dilated pupils, atypical absences which are commonly referred to as staring spells, and myoclonic seizures which present as sudden and uncontrollable muscle jerks or spasms.

Developmental and Epileptic Encephalopathy

Developmental and Epileptic Encephalopathy (DEE) is a group of rare and severe epilepsies beginning in infancy or childhood. DEE is characterized both by seizures, which are often drug-resistant, as well as encephalopathy, which is a term used to describe significant developmental delay or even loss of developmental skills. Frequent epileptic activity, which further disrupts development, is the hallmark feature of DEE.

In addition to seizures, the following problems are common in children with DEE: intellectual disability, movement disorders, respiratory issues, gastrointestinal issues, orthopedic concerns, and sleep disorders.